Lynch Syndrome International

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                             Photo - Courtesy of Cops for Cancer

 

Courage is not the absence of fear but rather the judgment that something else is more important than fear.  ~Ambrose Redmoon

 

 

SURVIVAL 101

 

This section is for us, who are at high risk for Lynch cancers, as well as for those who care for us.  These pages are intended as a road map, created by those who have been through the process and designed to assist others, who, hopefully, will pass the information on and continue paying it forward so families will be protected and lives can be saved.

 

Today's physicians are under more stress than ever before.  With a shortage of general practitioners nationwide and demands upon their time, as well as a lack of awareness and education about Lynch syndrome, they don't have the time or the background knowledge to answer the numerous detailed questions of the affected individual.  Lord knows we not only have a lot of questions and a considerable need for aggressive treatment by our medical professionals.

Most of us don't care about molecules interfacing with other molecules, the length of the strands of DNA within chromosones and the scientific factors of the specific mutations. Our needs are far more basic.  In the world, there are enough languages, without us having to learn and understand medical and scientific terminology. Essentially, what we want to know is:

  • Do we have Lynch syndrome?
  • Are we or our loved ones going to get the cancers?
  • Are we or our family members going to die?
  • At what age will we get the cancers, if we do?
  • What can we do to help deter cancers from occurring?
  • Is there affordable treatment for it and if so, what is it?
  • How do I find a good physician who knows how to care for us?
  • What do I do to prepare for treatment?
  • Will it affect our ability to get life insurance or will my current health insurance increase?
  • Will we be discriminated against?
  • Are there resources for us to get assistance?
  • What do we need to do to protect ourselves?
  • How do we adapt and learn to live with this?
  • How will this change our lives?

There are a lot of questions when one is diagnosed.  It is a time of uncertainty, of being diagnosed...and especially if one is facing with the challenge of recovering from a cancer.

This section is intended to assist one another through the myriad of processes, the hundreds of questions and the fears of the unknown encountered during the journey of traveling through life with Lynch syndrome.  If you have a question and need need, just call... 702-298-3911.  We are here for you.

Hopefully, many of these questions will be answered. We are here for one another. That is what Lynch Syndrome International is all about...caring for one another, creating public awareness of Lynch syndrome, educating medical professionals and protecting families and saving lives.

 

Modified 5/20/2014


 

 

 

 

 This diagnosis is a reminder that this is the life you’ve got. And you’re not getting another one. Whatever has happened, you have to take this life and treasure and protect it. ~Elizabeth Edwards

 

  

The Diagnosis Process

 

The first process toward determing if you have Lynch syndrome is to research and document a thorough family medical history. The Office of the United States Surgeon General has a computerized program for the convenience of individuals to complete.  It can be printed and provided to our care providers for assessment of not only Lynch syndrome but all hereditary disorders.  As well, the program has the capability to upload the documented family history directly to his/her medical record.

When you research the health of family members and those who came before us, don't hesitate to ask questions and be thorough.  Note if there were any hysterectomies or any biopsies taken from family members and from where or if t here were any hospitalizations and for what?  For those who passed away from cancers, see if you can get a copy of their medical records or A death certificate.

If the family history reveals a strong family history of  Lynch cancers, (colon, ovarian, endometrial, prostate, gastric tract, pancreatic, ureter, heptobiliary tract, renal pelvic, skin and brain) or early cancers, discuss it with your physician. Ask him to assess your family history to see if you are at risk for hereditary cancer. If he is unfamiliar with assessment, and you can afford the services of a genetic counselor, ask to see one.  If not, inform him about the Premm Model 1,2,6, which is approved by the National Comprehensive Cancer Network.  It is a very simply family history tool which can determine risk.  It has just a few questions about your family history. If the risk is >5%, he may prescribe genetic testing.

We cannot stress enough the importance of discussing Lynch syndrome with the family physician who may or may not prescribe consultation with a genetic counselor.  A genetic counselor is a very valuable resource who can determine the appropriate test for an individual in the event the physician is uncertain about Lynch syndrome testing.

Dependent upon that assessment, blood may be drawn and collected for genetic testing or you may be asked to donate DNA by rubbing the inside of your check with a swab (saliva test)  If genetic testing cannot be afforded, resources (see Menu for "Support") are available in many parts of the world to assist with costs.  If a mutation is specifically identified with a family member, the cost of genetic testing is substantially reduced for that specific mutation. If you have this need, please do not hesitate to contact us at 702-298-3911 and we can help with resources, or if funding is available, with assistance.

If an individual has sustained colorectal, endometrial cancer or any other Lynch cancer and has been diagnosed with Lynch syndrome, that individual is referred to as a "Survivor." Prior to the diagnosis of Lynch syndrome, the tumor of the survivor may have been submitted for MSI testing or IHC testing.  This process is basically a pathology test of the cancer to determine if characteristics of Lynch syndrome exist. If those characteristics are identified, guidelines dictate the physician will refer the survivor for genetic testing or consultation with a genetic counselor for consideration of genetic testing of Lynch syndrome. Several major medical associations are calling for universal MSI -IHC testing of ALL colon and endometrial cancer tumors as a basic standard of care. It is becoming popular as a secondary means of testing for those who have an active cancer.

If an individual has not sustained a Lynch cancer and has been diagnosed with Lynch syndrome, that person is referred to as a "Previvor." This means the diagnosed individual is at high risk for Lynch cancers and will need to participate in annual surveillance testing in the same manner as is afforded to survivors, in order to detect tumors before they become cancerous or metastasize into the body.

This annual surveillance and management for Lynch syndrome is a gift as early detection of cancers allows us to obtain early intervention through early treatment of the cancer or removal of polyps before they become cancerous and often before the cancer becomes life threatening.  It is very possible many of our previvors will never experience a full blown cancer.  Genetic testing and annual screenings are the closest thing to a cure, for us.

                                                                                       Modified 5/1

 


 

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RECOMMENDED SCREENING FOR LYNCH SYNDROME CANCERS

 

Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first. NCCN guidelines (NCCN Version 2.2011) state two to five years prior to the earliest age of diagnosis in the family, if under the age of 25 and to repeat every 1-2 years.



Endometrial Sampling: Annually, beginning between ages 30-35 

NCCN Guidelines reflect despite no current scientific evidence, annual endometrial samplings may be useful in select patients. (NCCN Version 2/2011)



Transvaginal Ultrasound: For Endometrial and Ovarian Cancer: Annually beginning ages 30-35 NCCN guidelines determine this is at the clinician's discretion.



CA-125: For Ovarian Cancer. While there may be times screening can be helpful, NCCN has determined data does not support routine ovarian screening for LS. (NCCN Version 2/2011) 



Ultrasonography With Cytology: Annually, beginning at age 25-35  (NCCN Guidelines, Version 2.2011 refer to an "annual urinalysis.")



Gastroscopy: Especially for individuals with family history of Lynch gastric cancers. NCCN guidelines recommends for consideration of gastric and small bowel cancer screening, an EGD with extended duodenoscopy (to distal duodenum or into the jejunum) and polypectomy every 2-3 years beginning at the age of 30-35. 

Other screenings may be considered including baseline gastric biopsies to evaluate chronic inflammation, atrophic gastropathy, and intestinal metaplasia and consider shorter screening intervals in persons with normal histology.  Evaluate for H. Pylori on the biopsies and by serology and treat those with evidence of infection.  Consider enteroscopy at the time of the EGD to evaluate the distal duodenum and jejunum. 

Consider capsule endoscopy for small bowel cancer at 2-3 year intervals beginning at age 30-35.



Examination and Review: Family History Review, Discussion of LS - Annually

 

Illustration Courtesy of Michael McCullough

Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. The National Comprehensive Cancer Center Guidelines recommend a total abdominal colectomy with ileorectal anastomosis in the event of adenomas not amenable to endoscopic rescection. (NCCN Guidelines Version 2.2011)



Hysterectomy and/or Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers.

 

Dermatological Examination:  For Muir-Torre (lesions of the skin including sebaceous adenomas, sebaceous epitheliomas, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)

 

Other tests may be ordered at the discretion of the Clinician to include screenings for pancreatic cancer, CNS cancer, prostate cancer, liver cancer, gallbladder cancer and renal-pelvic cancer.  Screening testing for H Pylori is often done.   H Pylori is a bacterium which can enter the stomach lining.  It triggers a release of cytokines which begin creating havoc by activating fibroblasts which rebuild infected tissue.  The high concentration of reactive gasses released by the inflamed cells create mutations in the cell's DNA.  The continued division of these cells creates cancer.  Discuss with your gastroenterologist H Pylori bacterium and your risk..

 

 

 The National Comprehensive Cancer Network sets guidelines for management of colorectal cancers and cancer syndromes.  Access is free, however one must register.  To locate the guidelines for Lynch syndrome, click under NCCN Guidelines for Detection, Prevention and Risk Reduction and then click on Colorectal Cancer Screening. These standards are pretty much a minimum standard of screening.  There is an entire section on Lynch syndrome.  Mentioned above is a "gold standard", utilized by many physicians to minimize risk for the various cancers of Lynch syndrome. 

It cannot be emphasized enough how very important annual surveillance is for those who are at high risk for Lynch cancers.  Within the colon, the tumors of Lynch syndrome are often very small and flat, therefore, difficult for some gastroenterologists to view.  Due to this small size, they can also become hidden within the folds of the colon.  These tumors are extremely aggressive and it is not unusual to hear survivor stories of cancers growing  and metastasizing earlier than two years, compared to the average dwell time of sporadic cancers which quite often take longer than five years.

Studies have revealed those with Lynch cancers experience a higher rate of survival than those with sporadic cancers.  It is believed this may be due to the frequent surveillance testing and the detection of cancers before they become life threatening.  Therefore, don't miss those annual examinations and if your physician attempts to talk you into examinations less frequently, stand firm in insisting on being monitored annually as several recent studies have indicated is the best professional practice.

There are many survivors who set a specific time each year, when their surveillance testing is scheduled.  In some families, it is done after birthdays or important holidays. The psychological advantage is the distraction of the celebration of reaching another milestone or a big event, therefore alleviating anxiety.  It allows entrance into the next phase of surveillance testing on a positive note.

 

Revised  7/11/2013

 


 

 

 

“The most sacred place dwells within our heart, where dreams are born and secrets sleep, a mystical refuge of darkness and light, fear and conquest, adventure and discovery, challenge and transformation. Our heart speaks for our soul every moment while we are alive. Listen… as the whispering beat repeats: be…gin, be…gin, be…gin. It’s really that simple. Just begin… again.”
–Royce Addington

 

 

 

TREATMENT

 

 

 

 

 

 

Individuals with Lynch syndrome face a high predisposition to contract cancer.  Cancer is the uncontrolled growth of abnormal cells.  They follow their own form of development apart from the normal development of cell growth, division and death.  They may travel to distant locations through the bloodstream or the lymphatic systems (metastases) or they may occur in adjacent cells.  

 

Those with LS face an up to eighty two percent (82%) risk of contracting colon cancer during their lifetimes.  If this occurs, treatment often involves prophylactic (preventative) surgeries, including:

Colon Resection: This procedure is ordinarily prescribed for individuals with Lynch syndrome and who have contracted active colon cancer which cannot be removed by colonoscopy.  In most cases where the tumors are on the right, subtotal colectomy is favored with preferences of the patient actively elicited.  This involves removal of most the colon, leaving a small amount to be reattached to the rectum.

The type of surgery one receives is dependent upon the location of the tumor and the advanced stage of the development of the cancer.  There are many types of colectomies which are performed however the most common is the subtotal colectomy.

At first, living with a colectomy seems like an incredible challenge and can be frustrating, especially if one is undergoing chemotherapy shortly following the surgery.  I can still hear my wonderful oncologist softly and reassuringly uttering, "Patience...time is your friend.  It doesn't seem that way today, but trust me.  It will get better."

As usual, the immense amount of wisdom she had, despite her age, was right...and it took about fifteen months for my colon to settle down and get into a routine that allowed me to do almost everything I was able to do before.

Each of us is different and some may not heal as well as others.  However, what we need to realize is we DO heal and we do adjust to our life circumstances. There are ways that we can do almost anything we desire, even with an unpredictable colon!

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                                Male Urinary and Reproductive Tract

As well, we may require treatment for many different cancers of the gastric system, the hepatobiliary system and the urinary tract system as well as the prostate, the skin, the brain, and women's cancers.  

 

                            Female Urinary and Reproductive Tract

 

Women diagnosed with Lynch syndrome face an extremely high lifetime risk for endometrial (up to 60%) and ovarian (up to 12%) cancers. (According to recent studies this risk may be even higher.) 

Unfortunately, the tests currently available for womens cancers are not totally accurate, though nonetheless, are still considered important procedures to undergo annually in hopes cancers will be detected.

Due to the high risk of contracting these cancers, for protection and to deter against their formation, it is recommended women consider elective prophylactic surgery including:

Hysterectomy and or/Oopherectomy: This should be discussed as an option after childbearing years to deter the high risk of gynecological cancers.  Most commonly, women with Lynch syndrome have the uterus and the ovaries removed as well as the cervix. This is an extremely common surgery conducted in the U.S. today and is believed to reduce the risk of Lynch syndrome induced womens cancers.

According to recent studies, the risk of alleviation from all cancers is not totally certain as there have been a few women who have contracted primary peritoneal cancer, despite having a hysterectomy.

The "peritoneum" is a thin, delicate layer of cells that lines the inside wall of the abdomen and covers the uterus, as well as extends over the bladder.  Consisting of epithelial cells, the peritoneum produces a fluid which eases the movement of organs inside the abdomen. Cancer of this lining is known as “primary peritoneal cancer” (PPC) and treatment consists of much the same treatment as stage III ovarian cancer.

Though these cancers are rare, it is important to be alert to the symptoms which include

  • General abdominal discomfort and pain, such as gas, indigestion, pressure, swelling, bloating or cramps
  • Nausea, diarrhea, constipation and frequent urination
  • Loss of appetite
  • Feeling full even after a light meal
  • Weight gain or loss with no known reason
  • Abnormal bleeding from the vagina

Studies relating to recurrence of women's cancers following hysterectomy are ongoing at MD Anderson and being studied carefully.  We urge everyone who has Lynch syndrome and who has undergone prophylactic surgery to participate in these studies in order to provide a better quality of life for those in the future.

Just recently, in Australia, teams of researchers are studying as to whether or not a component of Lynch syndrome exists, resulting in breast cancer. These studies have also been conducted in Finland, Spain, Lebanon and other countries. Early results indicate some Lynch syndrome survivors, with special subsets of Lynch syndrome, do contract breast cancer.  There is far more research which needs to be completed to determine the specific extent of those cancers. To protect one's self, it is always best to perform regular self examinations and get an annual mammogram.

Those same researchers have discovered several cases of cervical cancer which appear to be Lynch syndrome cancers.  This necessitates consideration of surgical removal of the cervix as a prophylactic measure, as well, when considering prophylactic surgery of women's organs. 

Of note, sarcomas, thyroid cancer and prostate cancer have been discovered within the Lynch syndrome.  

 

                     Revised:  9/5/2012

 


 

 

 

 

LYNCH SYNDROME AND THE FAMILY 

 

Lynch syndrome is a family matter and is passed down through families.  Following diagnosis of Lynch syndrome, the most loving thing any person can do is share that diagnosis with other members of their family.  Its not just a loving act, its a moral act, especially since Lynch syndrome targets families and in most cases, there are ten to hundreds of other individuals who may be at risk and whose lives could be saved as a result of your diagnostic results.

There is no "how to manual" directing individuals in how to complete this process and it is often difficult and emotional and communication between each and every family is very different.  Nonetheless, a gift of a diagnosis of Lynch syndrome is a gift of life.  It affords individuals an opportunity to grasp control over one's cancers

and grants them a sense of empowerment in being involved in preventative measures in order to protect themselves and their families.  No matter how you reveal the existence of Lynch syndrome, a diagnosis leads to prevention.

 

 

 

 

When advising children of the condition, its best to do so in small increments and in a confident and positive manner.  Most individuals who grow up within a Lynch syndrome family are acutely aware of the family history of cancer, including children.  Its a situation that is difficult to conceal from a child, so its best to simply be open about it. As time elapses, children become accustomed to its existence and both positive and negative future possibilities and are therefore open to genetic testing and ongoing surveillance, following adolescence.  Finally, when they are of age, they will not only have the tools of being able to cope with it, but be able to make important decisions as to how to prepare for the future and living with Lynch syndrome.

Kids are amazingly resilient and adapt to situations quite easily. Their minds operate with an incredible sense of logic and understanding.  With an open attitude and conversation, children become conditioned to prepare for testing when they become older.  If hope is emphasized, there is little need for fear.

 

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It's not denial. I'm just selective about the reality I accept. ~Bill Watterson

 

Occasionally other adult family members, upon learning of the diagnosis, don't immediately wish to engage in testing.  That response is often confusing to us, especially after what we, as Survivors, have experienced.  However, it is important for us to remember an initial diagnosis of Lynch syndrome or cancer is often frightening and overwhelming.

Cancer is often harder to endure for those who love and care for us than it is for us.  As a survival mechanism, we develop an early understanding with it and quickly find ways to adapt to fighting it.  While chemotherapy is terribly difficult and others see the trials we experience with it, they really can't totally comprehend how we realize our "enemy," which causes us so much pain, can also be our friend in motivating a new attitude and revitalization of survival within us.

For many of us, cancer is a bittersweet experience and a brutal teacher.  Through it, we learn how to appreciate and cherish life and relationships, as well as experience a new, intense desire, stronger than anything we have ever experienced before.  We learn we have only two choices, to fight and to live or to give up and face the alternative.  The world is no longer about "me and mine," its about "us and existence."

To those who care for us, what they see is cancer is a terrible unknown that devastates people.  To us cancer is a terrible, familiar enemy that we understand and instinctively know to fight, while it tries to devastate us.

Finally, we, as humans, are predisposed to fight or flight, when confronted with fear or intense stress.  Some of us fight and some of us run and thus attempt to escape the threat.  Eventually, with time, and eventually seeing the alleviation of the threat, individuals often come around and submit to testing.  It takes some longer than others and perhaps the message needs to be rebroadcasted in a different, nonthreatening manner, "Genetic testing is about life." rather than, "If you don't test, you will die."

Therefore, time is needed for others to adjust to the diagnosis. In that situation, its best not to push, but explain the facts in a calm, logical manner.  Simply ask the individual what difference would occur in their lives if they determined to test and leave the decision up to them.  As they see family member after family member test, they will eventually follow suit, hopefully.

When speaking to genetic counselors, physicians or geneticists, only tell them what you have no problem being put down into a medical record.  Even if you say, "This is between you and me," you can't count on that not becoming a permanent part of their health record and has been known to create extreme conflict and difficulties within a family.  So, be cautious with personal information which is incidental to the family health record.  Sometimes, it is simply best to document the family history, give it to the loved one and let them give it to their counselor.  

 

 

The best thing that can happen from taking a test is one may be negative and the worry of the unknown timing of the almost certain impending cancers is alleviated as are the fears of the need to protect one's children from Lynch syndrome. The uncertainty is over.

The worst that can happen is not very different from the current situation without taking a test, with the exception of the positive factor that you will be able to receive yearly surveillance in order to apprehend and remove tumors before they become cancerous or life threatening.  In viewing it from that perspective, the uncertainty still exists as to when and where the cancers will come, if at all, however it is offset by the hope and the knowledge that with ongoing surveillance and early detection, the tumors are more easily detec ted early and successfully treated.

In both scenarios, uncertainty is lessened or removed from one's life.  There is no more unknown and there is hope and empowerment in being afforded surveillance testing.

With time to digest the diagnosis, time to see what happens with individuals whom have been diagnosed, time to educate one's self and time to assess and reassess all the options, the individual will have the opportunity to make a choice, however comforting or however painful that choice may be to us.


 

   

 

You gain strength, courage, and confidence by every experience in which you really stop to look fear in the face. You must do the thing which you think you cannot do.  

~Eleanor Roosevelt

 

 

 PREPARING FOR TREATMENT

 

Once diagnosed with cancer, a whirlwind feeling of being overwhelmed is not uncommon, as well as emotions of grief and loss.  However, with so very much that needs to be done, there is seldom time to work through the emotional turmoil.  Once diagnosed, we find everything moves very quickly.  Actually, that's a good thing.  It doesn't give us a lot of time to engage in negative thought and activity.

For a more rapid and comfortable recovery, a number of us have found advance planning dramatically helps to alleviate later anxiety and worry over what hasn't been done or what needs to be done, especially during recovery or during treatment.  Not having these nagging concerns allows us to fully focus and concentrate on ourselves, in order to recover much more easily and to fully participate in treatment to annihilate the cancer.

 

Everything you can imagine is real. ~Pablo Picasso

 

Every one of us sees things through different eyes and the view in which we choose to see life and what occurs in life is often how we choose life to be, within our own realities.  In example, if we view ourselves as alone and lonely, then we ARE alone and lonely and life isn't very happy or comfortable.

However, if we view being alone as our choice to indulge in peace and solitude, it then becomes a very comfortable and pleasant experience. Reality is subjective and the manner in which it exists is dependent upon how we view it to be and react to circumstances which may affect us.

Some people cherish antiques and view them as rich, heritage items.  Others view them as used furniture.  Some view spectator sports as a waste of time and others consider it to be pure pleasure.  Some people view obstacles as "problems" and others view them as opportunities, making it easier to find a solution.

Cancer is definitely an obstacle and a challenge.  It isn't for the weak of heart.  It confronts us with a bold defiance in its desire to overpower and to conquer.  How we choose to view it as well as view ourselves, is a very strong factor in how we choose whether or not to survive.

 

 

 

"Everybody needs beauty as well as bread, places to play in and pray in where nature may heal and cheer and give strength to the body and soul."

-John Muir

 

The same holds true of healing. The way we view ourselves and our health ailment is an important part of how we heal.   When ill and while trying to recover, it is self defeating to over burden ourselves by allowing ourselves to be concerned over whether or not the house needs paint or the carpets need cleaning or the lawn needs mowing, especially if there is very little we are physically able to do about the situation.

That time could better be spent resting and revitalizing our strength following chemotherapy or spent engaging in visual imagery to obliterate the tumors or even spent reflecting upon the lives of our ancestors--considering what they endured and how they overcame almost impossible odds against them in a time when life was very difficult...and drawing from their strength.

It could be spent listening to music and allowing our bodies to heal, or catching up on reading that one book that caught our eye, or going through photo scrapbooks and thinking and sharing those important moments with those we love and those who love us.  When we are ill, if at all possible, apart from medical treatment, our activities should be those for which we hold a passion, not those to which we are obligated.  Positive activities and thoughts promote happiness. Happier people heal faster.

Finally, advance planning and removing potential problems and obstacles from our lives provides resolution and balance, allows us to relax and to listen to our bodies, thus giving us the psychological and physical strength required to fight cancer.

Below is a quick check list of things we felt may be helpful to complete prior to surgery and treatment.  Think about them, consider them, delete some, add others...allow yourself to be fully prepared for concentrating solely upon RECOVERY!  Therefore:

 

  • Spend a short period of time digesting the diagnosis and grieving--its normal, natural and necessary
  • Stand up and take action.  Its empowering and strengthening.
  • Meet with your family and discuss the cancer and impending surgery.
  • Meet with the surgeon. Its your body and its your life.  Ask him anything and everything you wish!
  • Submit to  laboratory tests and collect your own blood if desired for surgery
  • Prepare legal documents including will and final directives (should always be done prior to ANY  hospitalization)
  • Conduct a "spring cleaning" of home since surgery and chemotherapy may last six to eight months - wash those curtains, bedspreads, get the carpets cleaned and get the house smelling fresh, clean and welcoming for when you arrive home from surgery.
  • Perform necessary home maintenance to last until recovery and treatment is completed
  • Arrange for housekeeping
  • Stock home with food provisions
  • Arrange for home grocery delivery
  • Arrange for yard and garden service
  • Arrange for transportation to follow-up medical appointments and treatment.
  • Prepare room to be warm and comfortable for recovery.  Nothing makes healing more comfortable than a well prepared room. Items you may wish to consider:
  •  
  1. MP3 player or radio for music - music is soothing and healing.
  2. Television with remote features.
  3. Laptop with wireless capability.
  4. Lots of comfortable pillows.
  5. Telephone with intercom capability or mobile radios to summon assistance (so much easier than calling out for assistance and much less labor intensive for those who care for us.)
  6. Microwave
  7. Small refrigerator
  8. Corner shower seat (invaluable and wonderful for long, relaxing showers)
  9. Rugs on tiled floor (to alleviate from cold if neuropathy occurs)
  10. Night shirts (more comfortable to wear than pajamas or nightgowns)
  11. Reading material and glasses
  12. A good moisturizer hands, feet and dry body
  13. Baby powder to alleviate irritation from linens.
  14. Bed away from draft of window, but providing view of outdoors and sunshine
  15. Beautiful, indoor, flowering plant
  16. Warm slippers
  17. Warm Robe
  18. Bed pads to protect linens
  19. Night lights to allow vision when getting up at night.
  20. Ice Pack and Hot Pad...ice pack to reduce inflammation, hot pad to relax muscle contraction.

 

The final steps are to visit the anesthesiologist and, finally, prepare the day before surgery for the next morning.

Prior to surgery, it is important to stay clear of children and individuals who have been exposed to colds and viruses.  With cancer, our immune systems are compromised and we have to be in the best condition possible, both emotionally and physically, at the time of surgery.  A simple cold or virus affects us in the same manner it affects the elderly...and can quickly become a life threatening malady by developing into more severe complications such as pneumonia.

You may wish to dine at outdoor restaurants and watch DVDs rather than going to movie theaters and avoid crowded places before surgeries and while undergoing chemotherapy. 

When entering areas with sick children and persons (labs, radiology clinics, hospital waiting rooms) its best to wear a mask.  You may wish to keep one on you, when entering medical or other crowded areas, in order to protect yourself.

 


 

 

 

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"Healing takes courage and we all have courage--even if we have to dig a little to find it."

-Tori Amos

 

 

LYNCH CANCERS AND THE TREATMENTS

 

If not detected early and treated or remove, cancers can metastasize within one to three years for those with Lynch syndrome.  Metastasis is when the cancer cells may travel to distant parts of the body through blood or through the lymphatic system.  As they spread, they detach from the primary tumor and they dig through the blood vessel wall to enter into the bloodstream.  Again, they must exit the blood vessel wall to enter into the distant sites.  

 

Unlike a "Previvor" who has been diagnosed with Lynch syndrome but has not sustained a cancer, the "Survivor" is an individual who has Lynch syndrome and has been diagnosed with a cancer.  Dependent upon the extent of the cancer, treatment will vary.  Many different treatments exist, both scientific and those involving complimentary alternative medicine.

The specific Lynch cancers and/or treatments for each of them include:

Other cancers of Lynch Syndrome include Brain Cancer and Muir Torre (a skin cancer consisting of sebaceous adenomas - gland tumors - keratoacanthomas)  Breast cancer (in certain subsets) and prostate cancer have been recently added as a result of some studies.


 

 

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The goal is to live a full, productive life even with all that ambiguity.  No matter what happens, whether the cancer never flares up again or whether you die, the important thing is that the days that you have had you will have lived." - Gilda Radner

 

 DIAGNOSIS

  

Ordinarily, one of two events occur which ultimately result in a diagnosis of Lynch syndrome.  Either one gets the cancer and a Lynch syndrome diagnosis follows or a close loved one contracts cancer and family members are tested for Lynch syndrome.  With Lynch syndrome, there is always a "sacrificial lamb" who opens the door so others may live.

If you ask any person who has been diagnosed with cancer or Lynch syndrome of their initial emotion experienced upon diagnosis, three words: overwhelmed, fearful and immense grief, consistently spill out as the description of their response to the devastating news.

Grief is very common to loss and a diagnosis of cancer or a syndrome predisposing one to inherited cancer is  a loss--a loss of good health, a loss of control, perhaps a loss of a body organ, a loss of innocence, a loss of hope that the "family cancer thing" had eluded you, a loss of independence, a feeling of guilt and loss if one is negative for the syndrome while other family members are positive, etc.  Working through that grief is a process.

 

Since I came to the White House, I got two hearing aids, a colon operation, skin cancer, a prostate operation, and I was shot.  The damn thing is I've never felt better in my life."

-Ronald Reagan

 

First,  most  of us cry, and then, as SURVIVORS and PREVIVORS, we stand up and take care of business because we simply do not have the luxury of time to actively participate in the advanced stages of grief by focusing upon the anger and fear.  There is too much to do and the stakes are far too high.  We have to learn to pick our battles and save our energy for the highest priority of survival. Certainly, its only natural those emotions would arise on an intermittent basis but often they quickly drift away as moments fleetingly disappear as time flies past us.  What is often misunderstood and interpreted as "courage" by others, is simply pure survival to us.

We realize we may not have the luxury of time to involve ourselves within negativity, especially when it doesn't present positive results. We totally understand there are two options we have within our lives and we have to immediately commit to one or the other of those options.   We can either commit to life or commit to denial though I've never known anyone who has been successful over the long term in exercising denial and live long enough to talk about it. 

Once we commit to life, our priorities change, as do we.  We transform, having developed an attitude of gratitude and become grateful for our families.  We recognize what we may have inadvertently missed along the road we've traveled.  Through our eyes, the resolution of life becomes more enhanced.  Things are funnier, relationships are more special, the grass is greener, the sky is bluer and little things don't bother us as much as before. One Lynch Survivor put it perfectly, "People with Lynch syndrome are the nicest people I know.  They are kind, involved and love life."

One thing about Lynch syndrome survivors and previvors...very seldom do you ever hear, "Why me, why did it happen to me?" We may not like it but we understand it.  It may feel unfair but we realize, until there is a gene therapy or even a good standard of treatment, there is little we can do except get annual screenings, adopt an active lifestyle, keep a positive attitude and watch our diets. We understand it is part of our legacy from our families and those who came before us were far worse off than us.  They didn't have hope or technology to thwart the growth of a cancer.  They simply were diagnosed with cancer and at a certain point of their life, went to bed and died.  Us?  Today, we live!

 

 


 

 

I am not afraid of tomorrow for I have seen yesterday and I love today.

                                               ~William Allen White

 

Most of us have spent our lives focusing on life and living life to the fullest as a result of being a part of a family in which cancers have struck.  Most of us have been raised to appreciate life, no matter what it brings.

For many of us who have lived with a "family cancer thing" and have seen loved ones die of Lynch cancers, a diagnosis of Lynch syndrome is a blessing and brings with it a sense of finality from years of ongoing concerns and fears of the unknown.  Most human beings have a tendency to fear that which is not known to us and to gravitate toward that which is familiar. The family fear is now defined with a name and is no longer an unknown anomaly, allowing us to take control and own our syndrome.  We can be tested annually and, more often that not, Lynch cancers are highly treatable when discovered at an early stage, thus giving us the gift of enhanced longevity.  As it has emerged from the shadows, we become aware of what we are battling.  We become empowered in being able to protect our families and ourselves.

We learn we are not the only ones in the world with this syndrome and begin to realize Lynch syndrome is far more common than we thought.  In the United States, alone, over 600,000 individuals are projected to have the mutated gene causing the predisposition to cancers. To put this into perspective, that is the size of the population of Boston, Massachusetts.  Amazing, huh?

 

Aerial View, Boston, Massachusetts

Even more amazing is it is projected that less than five percent of that 600,000 persons have been diagnosed, to date. It is estimated one in every 440 people have Lynch syndrome.

Very few of us, thus far, have been the only ones who have been blessed with genetic testing.  The rest are unaware and vulnerable to cancers.  Perhaps that is why it is considered a rare disease?

In fact, having genetic mutations are extremely common.  Almost everyone has some form of genetic mutation--ours just happens to be being predisposed to cancers and fortunately, with today's technology and knowledge about how environmental and lifestyle factors interplay with cancer, we can protect ourselves.

Therefore, due to the above, we often don't take the time to engage in the delayed stages of grief.  Some of us have surgeries and treatments we need to undergo and busy ourselves making the necessary preparations and planning to keep our household running during our time of recovery.

Others, without the cancers, have priorities to reestablish, the need to develop a good medical team and readjust dreams, begin the process of annual surveillance testing, figure out the best way to prepare the children and how to live life, with this new and different perspective.

So, initially, we do grieve.  Its good for us to release the emotion.  Then, we stand up and we prepare.  We prepare for life and move forward upon a course of action. We prepare for surgery or treatment.  We prepare our bedrooms for comfortable and positive recovery.We prepare our home so there are no urgent maintenance issues during the time of recovery and treatment. We plan how our homes will operate while we are navigating through the process and we take care of business and make certain our legal matters are resolved and our final directives are made, not solely due to fear but of caution and because it is a good business practice and the most loving thing we can do for our families and those who care for us.

 

"This year for the first time, there was a drop in the reported number of actual cancer deaths in the U.S...Although we are winning the "war on cancer," there is a remarkable opportunity to save hundreds of thousands of lives and to reduce suffering from this disease with lifestyle changes and an increased use of proven screening strategies."

-Dr. Carolyn Runowicz

 

We learn more about our syndrome and we make lifestyle changes, realizing environment and lifestyle interplay with our predisposition toward inherited cancers.  We may choose to exercise more, work with guided imagery and positive affirmations, make adjustments to our diet and become aware of environmental factors which can exacerbate our risk.  Every positive choice we make enhances our quality of life and our chances for survival.

We sit down with our family members and alert them to the risk.  If we have cancer, we prepare for the difficult road ahead. A transformation occurs instead of withering within a cocoon, we stretch our arms and we embrace life.

 

"Gratitude bestows reverence, allowing us to encounter everyday epiphanies, those transcendent moments of awe that change forever how we experience life and the world."

 -John Milton

 

So, we go through surgeries and treatments, which come too soon for our hearts and our emotions and sometimes too late for some of us, having been easier if there had been an earlier diagnosis.  But we do it, because, again, we only have two choices once we have contracted the cancer.

We drag ourselves to the Infusion Clinics and make ourselves walk through that door, playing the odds, fully realizing the effort required will likely pay off with more moments of wonder and beautiful days. We are acutely aware of every breath we take and the colors and the smells of the earth around us. We experience an awakening.

Each day, following the completion of treatment, comes a renewed feeling of strength and a time of immense appreciation as well as a gratitude for life.  After diagnosis, many survivors focus on ways to make their lives count and on public awareness so more families can be protected and more lives saved.  Many engage in clinical trials and studies or enroll in registries so research can learn more about Lynch syndrome and the generations to follow may obtain a cure. Almost all make substantial lifestyle changes and undergo a change in priorities.

Just remember...there is substantial hope, technology and treatment today that we can live a far better quality of life than those who came before us.  One thing is for certain. With the knowledge of how fragile, wonderful and beautiful life is, each of the days, months and years to come, will be special and filled with a magical wonder for those of us with Lynch syndrome.

 

 


 

 

 

 

 

 

"If you don't ask the right questions, you do not get the right answers.  A question asked in the right way often points to its own answer.  Asking questions is the A-B-C of diagnosis.  Only the inquiring mind solves problems.

-Edward Hodnett  (1841-1920)

 

 

 

CHOOSING YOUR MEDICAL TEAM

 

 

The General Practitioner

 

Aside from family members, the most important people in the lives of a Lynch survivor and previvor are their physicians. The choice of caretakers can make an enormous difference in the quality and longevity of life and we need to be very careful in determining to whom we wish to entrust our lives.

First and primary is our general practitioner. He/she has to wear a lot of hats and requires special skills, including catching speeding bullets with his/her teeth, leaping over tall buildings, having X-Ray vision, hearing more confessions than the parish priest and providing as much advice on how to cope in life than a psychologist or a bartender.  He/she is our first line of defense in any illness, including Lynch syndrome and holds an enormous responsibility.

Today's physicians need the above skills, especially due to the lightening fast developments of medical care, whereupon it is essential to know almost every disease imaginable, how to test for it, how to diagnose it, as well as address and document all the patient's problems within an average of fifteen minutes per visit.  It is no wonder we see most physicians, today, choosing to be specialists.  It is also no wonder we see a severe shortage of GPs today, due to the extremely high, varied demands and the required knowledge to be an effective general practitioner.

In light of the requirements of today, the best GPs are super heroes and if we find one that has an inkling about Lynch syndrome or the time to research it, we have ourselves a super star that we and our families will wish to keep for life.

The process of finding a good practitioner is simple, however, with our special needs, we simply don't want one that is "good."  In fact, that is true for our selections of our entire medical team. We want the very best and to find them, we're going to have to search.

 

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Photo Courtesy of  Alex E. Proimos

 

The first place to begin our quest for an excellent general practitioner, gastroenterologist, oncological gynecologist, genetics counselor and oncologist, as well as other specialists dependent upon our inherited cancers, is through referral by those who work in the medical field.  Interview them as to the positive and negative qualities of potential candidates and ask who they would recommend to care for themselves and their own families.  They always know the best, most dedicated and passionate doctors.

However, don't stop at that.  Check out and research the doctor.  Verify the level of education and whether or not complaints exist at the State Medical Board level of your state and other states in which they practiced.  Run a quick check of the courts to see if they have been involved in any litigation. Research what activities in which they are involved and learn more about their lifestyles. Conduct a "Google search" on them and see what turns up. Then assess what you find, very carefully.

If you find your physician spends his/her weekends running marathons, be reasonably prepared to accept part of your recovery program to include exercise.  If he/she has an interest in nutrition, expect your diet to be in question and lifestyle changes to be a significant part of treatment.  If the physician writes they are interested in the spiritual health of an individual, it means they expect you to take on the emotional aspects of your medical care and to participate in your treatment in a positive, effective manner. (Actually some pretty sage advice...)

The next step is to call the office of the physician who meets your criteria and ask the nurse to ask him/her if they have ever treated anyone with Lynch syndrome.  If the nurse responds, "Just a minute.  Let me check with the doctor." things are hopeful.  It means if something serious occurs, the staff isn't going to "shine you on" as what occurred above and the physician will be consulted.  If she returns on the line and advises the doctor has treated individuals with Lynch syndrome previously or even states he/she hasn't treated anyone for it but knows all the criteria for the surveillance and management of Lynch syndrome and the effects of cancer treatment, that doctor is a strong candidate.

The third step is to schedule an appointment.  During the first visit, note whether or not the physician takes a family history.  If he/she doesn't, scratch the physician from your list.  The family history is important not only for hereditary cancers but any and all hereditary disorders, such as blood clots, allergies, heart problems and other matters which can arise or interfere with Lynch syndrome management.  It is a very basic standard of care, taught in all medical schools.  If the doctor doesn't take the family history, don't walk, but run out of his office.  If he does and you click with one another, come to an understanding with one another.

Seeking medical care and advice and following medical care and advice is a two way street.  Just as we have expectations upon our physicians, they have expectations upon us.  Its important to discuss these with one another and make certain an understanding exists as they are the experts in their field.  Sometimes that understanding can be as simple as, "You are the doctor and I am the patient and I am trusting you to know and learn all you can about Lynch syndrome and protect and treat me to the very best of your ability and I will do whatever you feel is best for me but I need you to communicate with me and tell me what I should do.  I will commit to listening to and following your advice and learn more about my syndrome in order to become more empowered and to achieve a positive and successful recovery."

Our general practitioners will be with us for years and some will care for us during OUR entire lifetimes while others will be with our GPs for THEIR entire careers.  A mutual environment of trust and confidence in one another is essential, due to the long term relationship and the nature of our disease.  The choice of a physician is extremely important to us.

My general practitioner is excellent.  He has a passion for people, for life and for what he does.  With a military background, his training is outstanding. His skills are excellent.  He is a wonderful listener, is positive and full of energy.  He is always prepared and has reviewed my file prior to our appointment, knowing up to the minute what has occurred with treatment with other members of our medical team.

He knows my background, both professionally and personally.  He is aware of the challenges faced in life, of my children, of my husband, of our home and where we have lived.  He is aware of the challenges of treating an independent patient as me and we have an excellent understanding with one another.  He is the expert and his job is to keep me alive.  I am the patient and my job is to follow his instructions, make lifestyle changes and keep my attitude positive in order to allow my body to work within his efforts.  I like and respect him as a person and have the utmost confidence in his abilities.

Life with Lynch syndrome is greatly eased when we are so very fortunate to have an excellent general practitioner-- and one that cares, is passionate, dedicated, committed. competent and blends with our lifestyles.

 

 

 

CHOOSING A SPECIALIST

As mentioned above, we, with Lynch syndrome, need a few specialists in order to survive and in some cases, those of us with Lynch II need more than just a few. We want the best and the most experienced.  The type of specialist we need is dependent upon the type of cancer we sustain.

In looking for a surgeon or a gastroenterologist, don't look for "Mr. or Ms. Warm and Fuzzy."  Look for someone who will tell you the "way it is," and exactly what needs to be done as well as the expectations of you.  Seek out someone who loves their job and has a passion for being the best. Ask your general practitioner for his recommendation of the best specialist for YOU, not simply the "best specialist."

Bedside manner is not the first thing we are seeking or want from a specialist (except perhaps our oncologist, gynecologist and our genetic counselor.)  What we need, with our syndrome, is someone with the the best knowledge and the best skills in detecting and removing cancer.

 

The Surgeon:

One of the primary specialists many of us will need is a surgeon who will "resect" or remove the cancer and threatened surrounding organs, if they can safely be removed.  In major population centers with a large amount of resources, there are surgeons who are surgical specialists, who have an immense amount of knowledge of a specific organ as a result of their specialty.  They are able to keep on top of the newest means of technology and research discoveries.  Those are the ones we, with Lynch syndrome, need.

Prior to surgery, interview your surgeon.  Verify his experience.  It has been my experience the surgeons which are the best for the resection of gastric cancers are either those who were trained or work in the large cancer centers or, today, the ones who have military experience in the Middle East, treating our soldiers.  The trajectory of IED injuries ordinarily arise from the ground upward, thereby damaging the bowels and the gastric system.  Not only are these physicians adept in colon and gastric surgeries but they are adept in successfully treating trauma situations which may occur during these surgeries.  They are the best. And when it gets down to it, when we get into surgery, we don't want the new kid on the block, despite all his training.

 

The Gastroenterologist:

Too many individuals put too little emphasis or notice upon their gastroenterologist.  One of the most important physicians in our lives, the gastroenterologist needs to be extremely proficient, with an adept eye to seek out polyps and other anomalies in the colon or the gastric area which are characteristic with Lynch cancers.  The gastroenterologist will also assess the family history, which will determine which tests are necessary for annual surveillance.  He will examine us annually and be consulted if there are any abnormal tests that indicate possible problems in the gastrointestinal areas of our body.  Often our relationships with our gastroenterologist last for years, until the end of our lives or the end of the doctor's career.

Some individuals require an annual endoscopy as a result of a family history of gastric cancers and some have none because their cancers have solely been those of the colon.  What is prescribed is dependent upon the family history so if the gastroenterologist doesn't take a family history or take the time to speak with you, find yourself another.

An excellent example of a follow up examination with a gastroenterologist is as follows:

"We met with our gastroenterologist in the morning as a result of referral from our general practitioner due to rising liver enzyme levels. (Surveillance following colon cancer mets, diagnosed 11/2007) My doctor had updated himself with my medical history the night before.  A chart  of the gastric system was affixed on the wall in front of me.  We discussed the human body and predispositions, conditions and lifestyle choices which could contribute to rising liver enzyme levels, such as fatty liver, diabetes, etc.  A review was conducted of current medications which could escalate the levels.  Diet was discussed, which could aggravate inflammation.  The colon's ability to function effectively was discussed. We discussed the panel of testing conducted by my GP to rule out factors which may cause the elevation of levels. Further testing was discussed, including a prescription for a sonogram and a urine cytology as well as additional testing to rule out one or two other lessor, likely factors. An appointment was set by the physician for the testing and advice given on how to resolve reflux issues.   The physician listened to concerns and examined the abdominal area with palpitations and listening to gastric activity.  One area of pain was attributed to diet creating gas and reflux. Two areas of pain appear to be unrelated to the first and are being explored with further testing.  After being educated and advised of the treatment plan, we left feeling comfortable and confident that no matter what was found, it would be resolved and treated early."

Anyone who has a physician such as that is fortunate.  It is the example of an excellent gastroenterologist who is involved, takes the time to listen to us and explains information to us, allowing us to work on controlling and owning our own cancers.  This is the gastroenterologist one wants when they have Lynch syndrome.

 

The Gynecologist:

Women will need a good gynecologist or gynecologic oncologist. There are many gynecologists who do not know about Lynch syndrome or its cancers, despite the very high risk of contracting female cancers.  Speak to your general practitioner and ask him to recommend a good one...one that would be desired to treat either the physician herself or the physician's wife. If available, individuals at risk for Lynch syndrome may wish to seek out a women's cancer specialist, a gynecologic oncologist who should and will know the risks of the lynch cancers for women.

 

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The Oncologist:

For those of us Survivors, one of the most important individuals in our lives is our oncologist who will work with us while treating our cancers and who will remain in our lives during the "follow up" stage, for several years after treatment.  The oncologist comes into our life ordinarily following the surgery.

The oncologist is our life line as we go through treatment.  They will order testing to determine if the cancers are being eradicated, prescribe and track our treatments such as chemotherapy and radiation and monitor us, often for many years, following a cancer diagnosis.

An oncologist with an excellent team of oncology professionals; oncological nurses, oncological nurse practitioners and a trained, sensitive staff, is a god send.  Often, treatment time is spent with these individuals and they become a very important part of our lives and a very important part of our chances for survival.  Find an oncological team with whom you are comfortable. 

 

The Dermatologist:

Muir-Torre is a variant of Lynch syndrome which is characterized by the development of sebaceous adenomas, epitheliomas and carcinomas as well as kercantothomas  (Various tumors upon the skin) as well as the possibility of development of the other Lynch cancers.  It is important to realize skin cancers are a part of Lynch syndrome and to discuss this with our physicians for screening for the presence of these tumors.  It is important to have a good dermatologist who has a knowledge of Lynch syndrome and Lynch related tumors on our team.

A good dermatologist for us, is familiar with Lynch syndrome and Muir Torre, a specific cancer syndrome, consistent with Lynch syndrome.  The dermatologist will assess your family history and scan the body for anything on the skin which appears unusual.  Dependent upon the family history, one may see the dermatologist every six to twelve months.

 

The Urologist:

Bladder cancers and renal pelvic cancers impose a 12% to 20@ risk to those with Lynch syndrome and are more commonly seen within the MSH2 gene.  As well, studies indicate a two fold risk for men for prostate cancer.  The urologist can be a Godsend and a very valuable member of your team.  They may choose to perform an ultrasound or take a urine cytology, and many give scopes, if there is a family history of bladder or ureter cancer.  Your urologist will determine what kind of screening you need, hopefully taking into consideration family history and other factors.  

 

The Genetic Counselor

This individual is very important in our life as he/she will work with us and assist us in preparing our families for their missions in protecting themselves and their families through diagnosis. 

The genetic counselor will take a family history and determine which tests are necessary to be ordered.  They will explain Lynch syndrome in detail and answer any questions a patient may have about the genetic details of Lynch syndrome, about anti-discrimination laws and be able to give accurate information and facts about Lynch syndrome.

The genetic counselor, most often, will be available to assist in how to notify the family members about Lynch syndrome and be there to answer important questions one may have.

 

Other Specialists

Lynch syndrome encompasses so many different cancers that many various specialists may be needed, including pediatricians (for the younger survivors) endocrinologists, neurologists, gynecologic oncologists, specialized radiologists and others.

To find the best specialists who have a strong knowledge of Lynch syndrome, the best approach is to first speak with your GP and ask for his personal referral and with whom he would work best.  With an excellent GP, you can pretty much be assured he will only be referring quality specialists who will focus on providing you with the best of care.

 


 

 

                                                                                Credit:  CDC - Dawn Arlotta  by Cade Martin 2009

 

 

 

"So if there is a purpose to the suffering that is cancer, I think it must be this: it’s meant to improve us." ~  Lance Armstrong

 

 

LETS TALK FOOD!

 

Many studies have been conducted as to defining a proper diet to deter the growth of cancer.  Though Lynch syndrome is hereditary, environmental factors do play into the propensity to contract cancer.  A diet to deter cancer is simply eating good nutritional foods.  It isn't all that different from eating a normal, healthy diet.  It's simply balance.

The reason diet is so significant and plays into creating a predisposition toward cancer is historical.  Accumulating data in respect to cancer is fairly new, as good statistics on cancer incidence have only occurred since 1950, although the oldest cancer registry was established in 1932.  Data on mortality, which goes back much earlier in the developed world indicates stomach cancer has decreased, taking second seat to lung cancer worldwide. However the rise of other cancers have increased, including breast cancer and colon cancers.

Cancer diagnostic technology vastly improved and became more sophisticated, progressing at higher and higher levels through the years. Today, mortality rates have decreased as a result of improved diagnostic knowledge, skill and technology, resulting in earlier diagnoses.  The benefit we have seen from this is the improvement of survival.

Within the United States and the western world, general technology improved during the 1900s, as well, and the world became involved in mass industrialization which put emphasis over quantity of product and created an adverse effect upon the quality of environment, creating problems such as unclean air, mass fuel emissions, polluted waters, polluted soils, etc.

 

 

As the age of affluence approached, so developed the age of convenience.  Vehicles became more readily available and less costly. Many families owned several and the family horses were put out to pasture.  As a result, today, many people have stopped walking.  Its not unusual to see them hop into the car and young moms and dads drive five or six blocks to the nearby elementary school several times a day in order to deliver or retrieve their children.  As a result of technology, instead of an everyday necessary activity, as walking once was, exercise has become a "recreational activity" and a luxury only when it can be afforded or....desired.

As the consumer society developed, individuals purchased items that were convenient in nature, including processed foods, foods with chemical additives, non-stick coatings on cooking utensils, cooking with items made of plastics, etc.  This love and desire for convenience extended to quick and different food preparation methods including use of the microwave, the outdoor gas barbecue and the creation of chemically improved wood chips to enhance food flavor.  Meats became a staple in homes, used in large quantities, whereas in the past, it was only eaten in small amounts on occasion. The world developed a sweet tooth for items with sugar--sodas were no longer savored "treats" but an everyday drink, rich foods became part of the everyday diet as did artificial sweeteners.  The people of the world took to excesses as competition and products became more and more available and more and more affordable.

 

 

 

We began to become a "feel good" nation which focused on the desires of the individual and not the needs of the person.  The "me society" became one of entitlement and one that was prone to excess...anything, as long as it felt good.  That is where we currently are today, destroying ourselves, our environment, our communities and our families unless we find a balance.

During the 1900s, food production became more enhanced to meet the demand of the new consumer society which had developed.  Methods were developed including genetic modification of food, the injection of hormone, arsenic including in animal feed, and controlled artifical and unnatural feeding of animals instead of grazing in fields.  Pesticides, meat additives, artificial preservatives, soil additives, chemically enhanced flavors, water fluoridation and a host of other items were developed to feed into the gluttony of the world.

As a result, we humans began eating differently.  Instead of coming in from the fields or going home for lunch and eating fresh, wholesome foods, we began commuting further distances to work and grabbing quick, convenience items--a bag of chips, a quick cheeseburger and fries,  processed marshmallow filled cupcakes and a can of soda for lunch, or munching on a processed donut while drinking a cup of coffee on our way to work.

Not only did food have to taste good but it had to look good.  Dyes were used. Flours became processed and bleached, as did rice, to create a pleasing aesthetic appearance.  Refined sugars were developed with a pretty, sparkling, crystal white appearance, rather than its natural state. The result was individuals were losing a considerable amount of nutrition required to stay healthy and had lost the natural balance of eating.

The world and the human being, in its ever constant pursuit to perfect itself had been poisoning itself. The result was a flurry of studies by medical researchers to find out why people were getting ill and contracting cancers.  Study after study has determined outside influences, such as environment, diet, lifestyle and technology imposes a big effect upon whether or not one will get cancer and the more predisposed we are, the easier it will be to contract.

This becomes obvious with those of us who have Lynch syndrome.  How is it that twenty percent of those who have the mutated gene don't get Lynch cancers while many acquire a myriad of cancers during their lifetimes?  What is the difference between those who have survived a cancer or two and live to old age while others succumb while young?  Clearly something occurs which increases the odds of survival for some and decreases the odds for others.

It appears cancers, including those of Lynch syndrome, may have possibly evolved as a result of the above mentioned factors.

 

 

 

Prior to 1913, a University of Ann Arbor, Michigan professor and pathologist, Dr. Aldred Scott Warthin noted and identified a family that had a "familial cancer."  During treatment of a young woman within the family, he gleaned the members medical histories and in 1913 documented his findings of this fascinating German family.

Within that family, which had been researched back to before the Civil War, it was noted there had been a history of stomach cancer, colon cancer and uterine cancer.  At the age of sixty (60) the first diagnosed died of colon cancer at the age of 56, leaving behind ten children. Three of his five sons and two of his five daughters died of a possible Lynch cancer, the men developing stomach cancers and the women, uterine cancers.

Warthin died by 1936 and had documented 17 individuals from the first two generations of that family had sustained cancers, with an introduction to intestinal cancer in the third generation.  Upon his death, his associates Carl Weller and Jerome Hauser, continued his work, finding far more individuals within the family contracting similar cancers. There was little note of colon cancer.

The third generation, which consisted of seventy individuals indicated only two of those individuals died of stomach cancer, fifteen died of uterine/ endometrial cancer, seven died of colon cancer, three died of rectum cancer and one died of cancer of the intestines.  It appeared the family had evolved during the 20th century and the incidence of stomach cancer had decreased and cancer of the colon had increased.  Finally, in the last generation, Dr. Henry T. Lynch, who had followed this family, following Weller and Hauser, noted the incidence of stomach cancers had dramatically decreased and was almost nonexistent with many of the cancers sustained being replaced by cancers of the colon and the rectum.

We have to ask ourselves why and how the cancers evolved and changed.  Dr. John Potter, MD, PhD, of the Fred Hutchinson Cancer Research Center studied this and published an opinion piece in 2001, entitled "At the interfaces of epidemiology genetics and genomics."

He determined based upon his experiences with Lynch syndrome and study of the family documented above, "High risk variant alleles, (forms of gene ordinarily arising as a result of mutation and causing hereditary variance ) such as MSH2 mutant alleles in HNPCC families, with pleiotropic (multiple) effects across generations of the same family, probably, as a result of changes in environmental exposures."

What environmental factors?  Certainly smoking and diet has played a major role in the evolution of the cancers. In fact, individuals with Lynch syndrome may be at an increased risk for colorectal cancers. As a result of environmental factors, in the U.S., we have noted an increase in cancer.  Interesting to note is this trend is being followed globally as the same sort of evolution of cancers which has occurred here is beginning to occur more widely in some European countries and elsewhere in the world.

 

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It is important we ask ourselves why the risk of contracting cancer for the average male in India is one fifth of that for the average American male? Why has the rate of colon cancer in Japan become the highest in the world and much higher than within the United States? Why do the Chinese have lower rates of colorectal, breast and prostate cancers than we sustain in the U.S., and why are there rising occurrences of these cancers now being observed in their urban areas?  Finally, why do those who consume a Mediterranean diet (lots of fruits, nuts and vegetables and very little red meat) have far less cancer than their American brothers and sisters?

So, what do we do to survive?  We eat an anti-cancer diet, which is basically a balanced diet.  We exercise and protect ourselves by using less chemicals around our homes and yards, engaging in healthy activities and avoiding unhealthy environments.

It has become clear to us that diet, exercise and attitude is a big factor for deterring cancer and perhaps growing and providing our own food sources are far more reliable than those commercially available to us.  Gardening our own food is certainly healthy in it allows fresh air and activity for us.

What is also clear to us is, whether or not we have a predisposition to cancer or whether we get cancer, a big factor in contracting cancer and/or a specific cancer is likely a result of lifestyle, cultural and environmental impacts.  The big question is whether or not we will recognize many cancers are a result of our love and desire for technology, self gratification and convenience and what choices we are going to make in the future in order to protect ourselves and our families.

 


 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Cancer came back into my life twice in order for me to understand something, and I guess I still wasn't getting it. And my husband wasn't getting it, either. ~Mariel Hemingway

 

 

DIET TIPS

Many studies have concluded that diets which are low in fiber, high in red meat and which don't include a sufficient amount of vegetables may cause colorectal cancer.  But what about our diet in general?  What should we be eating and what should we not be eating, especially having a predisposition for cancer as a result of a mutated gene?

In looking at how cancer develops, we know cancer cells take up more sugar than any other cells in the body.  Consuming sugar doesn't make cancer grow faster, but cancer does feed on glucose as do all tissues that use a lot of energy.  A recent study has indicated consuming foods and beverages which are high in sugar create more insulin production and which is linked to endometrial cancer.

Being predisposed to cancer, we should consider reducing or eliminating refined sugar from the diet in order to deter cancer as well as avoid other disease such as diabetes, etc.  The same is true to high carbohydrate foods, breads, snacks, etc., which revert to sugar in the body.  Studies indicate an impaired glucose metabolism may contribute to pancreatic cancer.  Its much healthier we break our dependence upon sugars and as one very astute Clinician has suggested, "Control the sweet tooth and keep sugar use to a minimum."

Dark chocolate has been considered to be good for us and a deterrent against cancer!  The darker the chocolate, the more antioxidant it contains However caution is recommended. Only the dark chocolates are considered healthy and balance is the key. A good practice is indulgence in moderation...

Limit or eliminate red meats. (The World Cancer Research Fund recommends no more than 18 ounces per week.)  Some studies indicate a reduction of 50% red meat may reduce cancer risk as much as 50%.  Recommended individual meat portions are the size of a deck of cards (about three ounces.)  Eating meat sparingly as an ingredient and taking it from the center of the plate, rather than as an entree, such as in a beef stroganoff or pastas or soups and stews can help reduce eating meat, painlessly.  We seek organic beef from animals which graze, rather than are fed with filler foods such as corn, etc.  Going vegetarian (pastas, rice dishes, vegetable casseroles, etc., several times a week can make an enormous difference and decrease in risk.

Colorful vegetables are a great addition to an anti-cancer diet.  For maximum effectiveness, briefly cook broccoli, cauliflower and other high fiber vegetables rather than boiling.  Prepare beans, peas, legumes, romaine lettuce, carrots, yams, pumpkins, squash, swiss chard, greens, parsley, celery, and shitake and other Asian mushrooms. These are great recipes for those "non meat meal nights." 

Recent studies indicate Omega 3 fish oils, taken in excess can possibly increase the risk of prostate cancer by 70%. Studies indicate fish is good for us, so the real key here is to exercise moderation. It is recommended to eat fish a few times a week. Other forms of Omega 3s, which indicate to be healthy include walnuts, canola oil, broccoli, cantaloupe, kidney beans, spinach, grape leaves, Chinese cabbage, cauliflower and flax seed. 

Most of us love potatoes but in quantity, they aren't all that good for us.  Potatoes are fine on occasion but all too often we eat them as french fries, or with butter or fatty sauces upon them. Recent studies have evidenced the preparation of the potato can be a problem for those at high risk for cancers and snacks, particularly chips, are particularly a problem.  A recent study from Holland indicated dietary patterns with a high level of snacking may result in colorectal adenomas in those with the Lynch syndrome.  Yams, sweet potatoes and brown rice are some healthier exchanges in carbohydrates.   

Brown rice, which if eaten in moderation and infrequently, can help us with our bodily functions on those special days when our colons are overactive and we need to use a BRATY diet. Its best to keep rice and other carbohydrates to a low level, just enough to balance the meal as there have recently been found a high level of arsenic in some rice.  

Substituting multi-grain and sourdough breads for white bread, purchase range fed chicken and use butter instead of margarine may be an option. A recent study has determined dairy products do not put individuals at high risk for cancers, however there is still concern about the fat content within dairy products which may continue to pose a risk.

Having Lynch syndrome and a predisposition to cancer, a lower fat diet is essential.  Its been recommended to avoid excess salt and saturated fats. It has been long recommended to cook with extra virgin olive oils and canola oils instead of corn oils.

Green tea, dark teas and coffee has been greatly studied and it has been found all of these have a similar set of interesting and possibly useful anti-cancer compounds in them. Green tea is particularly fascinating as studies evolve.  There is concern about drinking it at warm temperatures, however other studies are indicating it may have some benefits, especially as a cold tea.  A recent study of the combination of selenium with green tea may be more effective in reducing the oncogenesis of colorectal cancer.   A study by Texas A&M conducted on the consumption of coffee indicates a compound known as trigonelline may reduce the risk of contracting colon cancer.  However, there may be a dark side to it for some individuals.  Researchers advise patients facing problems with estrogen dominance and other estrogen related conditions such as breast cancer may wish to avoid consuming the compound as it may increase their levels.  Finally, just recently, a study from Finland of Finns appears contradictory to the study by Texas A&M indicating heavy coffee comsumption indicates no benefit for the Finns, whatsoever, from drinking coffee.  

To spice foods, rosemary, turmeric, ginger, thyme, mint, anise, camphor, fennel and allium are great!  (Some advocate to add black pepper and olive oil to the turmeric as it is felt pepper is needed to interact with the positive qualities. This may be true, but the evidence is slight.) Eating lots of garlic, onions and tomatoes is said to be very healthy. The National Institute of Health recognizes garlic as having anti-cancer properties as well as pomegranates, red grapes, strawberries, blueberries, raspberries, apples, pears, plums and prunes as they are considered excellent anti-cancer fruits. Actually any and all fruit is good for us!

Strongly consider avoiding processed, smoked and prepared foods.  Afterall, it only takes about two minutes more to prepare homemade salad dressings, mayonnaise, mustard, etc., and they taste so much better without the high amounts of sodium, the chemicals and the preservatives prepared items have. Recipes for homemade preparation of condiments are abundant on the internet.

Bagels, pastries, sodas, chips and basic junk foods aren't all that healthy for us. Filler foods are not only not all that nutritious in value but many have additives and chemicals which are not natural.

We're now free to toss away that collection of vitamins which clutter the kitchen counters.  Studies indicate if one isn't deficient in those vitamins, they don't do any good.  Multivitamins show no benefit and are simply profit making products for drug companies.  Some supplements, including herbal tears may interfere with chemotherapy treatments, especially as recently discovered for ovarian cancer, so be sure and discuss taking any supplement with your physician and your oncologist.

Finally, a bit of diversity is always good for an open mind, open heart and cancer free life. Incorporate evening meals, each week, to include basic Mediterranean foods, Asian foods, food from India, seafood and simply homemade soups and salads.  Experiencing diversity with foods is not only fun and wonderfully tasty, but could be life changing and life saving.

 

 

 

The internet is full of tips on how to protect one's self from cancer however before taking anything, be sure and discuss it with your physician to make certain it will not harm you or interfere with your treatment.  Don't let that supplement sales person sell you anything until it is discussed with your doctor.

A few other health tips we've found:

Discuss with your doctor, taking aspirin, as a cancer deterrent. Studies indicate it acts as a deterrent against colon cancer, especially in those affected by Lynch syndrome.  

Studies have recently indicated the sun is great for us as a major contributor of Vitamin D within our body!  A new study released January of 2010 indicated of 1248 patients, those with the highest blood levels of vitamin D had a 40% lessor risk of contracting cancer than those with lessor levels.  Of course, more studies need to be completed.  In respect to taking Vitamin D supplements, long termed adverse effects are not known if Vitamin D taken in high doses. However, it does appear Vitamin D, obtained from foods and the sun, is extremely good for us and may be a deterrent against cancer.  Grab your sun screen and head outside every day to take in a few rays!  However, while Vitamin D is helpful in alleviating some cancers, a recent study indicates it does little for lessor known cancers. So, sunshine may help alleviate colon cancer, however may do little for other cancers.  One thing we do know...it does lift spirits and makes the day brighter!

Over the years, there's been a little secret few individuals have known about--a product called Sun's Soup, made of vegetables which may inhibit cancer growth. Studies have and are being conducted of it and its properties and it has been found to slow the growth of cancer tumors in mice. It may be something to think about after it has been closely studied.

We need to be cautious with what we read in "studies," taking into consideration the population studied, including lifestyles, environment, ethnic diversity and many other differences between culture and societies.  Studies are simply a silhouette of conditions which exist in a specific place, at a specific time, with a specific group of people. A good place to find out if that food or supplement is good for us, check with the NIH first, who studies not only top technological treatments but natural treatments, foods and claims of cancer deterents. They have a great search engine, where you can simply put in the item and read the recent  U.S. and internationally collaborated governmental research on it. 

Bottom line is we know fresh foods are good for us...we know balance and moderation with eating, as well as in life, is important.  If it looks healthy, tastes healthy and feels healthy...its probably healthy for us.

Finally, this guy has some great tips for healthy living to deter cancer...it's well worth reading!

 

 

With gratitude to Dr. John Potter of the Fred Hutchinson Cancer Research Center, Seattle, Washington, for his very patient and lifesaving lessons in the importance of diet and exercise, "anti-cancer style" and MD Anderson Cancer Center for their terrific tips!

Revised 10/22/2012


 

One must not forget that recovery is brought about not by the physician, but by the sick man himself. He heals himself, by his own power, exactly as he walks by means of his own power, or eats, or thinks, breathes or sleeps.

 

~George Groddeck

 

Exercise

Study after study has exalted the power of exercise for individuals who have been diagnosed with cancer.  Exercise is key to survival and longevity in life.

Cancer treatment can be devastating to the normal functions of our bodies, wasting muscles and weakening us.  Exercise keeps the muscles working and the body flowing in rhythm with itself, much the same as the inner workings of a clock.  Everything operates in sync with one another and we keep ticking!

When we exercise, it eliminates a number of the short and long term side effects from treatment and deters the growth of new cancers.

  • It helps us rest and sleep better, allowing our bodies to repair themselves without distraction.
  • It reduces fatigue.
  • It repairs muscular deficiencies.
  • It keeps us flexible and enhances dexterity and balance.
  • It cleanses our bodies of unwanted toxins.
  • It increases strength and muscle tone.
  • It supplies oxygen to the body, the brain, the cells and the blood, enabling them to ward off cancers and enhances resistance.
  • It reduces blood sugars upon which cancers thrive.
  • It makes us feel good!

 

Psychologically, exercise has its benefits:

  • It helps us relax and minimizes stress.
  • It elevates our moods.
  • It induces a sense of empowerment and reduces the feeling of vulnerability.
  • It makes us strong and confident, thus instilling hope.

 

Each of us could come up with several dozen excuses not to exercise but that takes as much energy as exercise takes.  Rationalizing reasons not to exercise is pretty counter productive.  Further, its conflicts with the rest of our character which advocates we CAN acheive anything we set our mind to acheive, including survival.

With that in mind, it basically comes down to "where do we start?"  And the answer to that is very easy...all we have to do is look deep into ourselves, reflect to the past, think about applying it to the present and simply doing it, in the future.

 

 

Close your eyes and take yourself back to when you were eighteen years old.  Its Saturday morning, the sun is shining and you were eager to leap out of bed and do.....what?  Was it play tennis, go swimming, hike, walk around town with your friends, roller skate, ice skate, ski, run, dance?  Did you go bowling, ride a horse, ride a bicycle, go sailing, canoe?  Did you go to work and buck hay or stack boxes or ride the surf on a surfboard or boogie board? Was it sledding or enjoying the smells of autumn while raking leaves?

When did we lose our passions to do those things?  Life is full of adventures and we'll only find them if we get up off our couches or easy chairs and get out into the world.  Relive your youth and do all the things you loved doing.

Exercise doesn't have to be boring...it can be fun and educational.  Grab a basketball andput the kids or the grand kids to shame by showing off your skills and tossing a few buckets!  Listen to beautiful music and dance with a friend on the back lawn, under the stars.  Dust off that mitt and race out to catch a few fly balls or attach that leash to the collar of the dog and take him to the park where you can play ball together.

Life is about people and relationships and exercise can be a lot of fun...in fact too much fun to do alone.  Grab your friends, members of your family or fellow survivors and jump into it!

Almost everything in life involves exercise and activity...its just a matter of getting out there!

Oh, by the way, if you don't like this message, then go fly a kite, jump in a lake, take a hike.  Just do something that gets you moving!


 

 

 

 

CHEMOTHERAPY AND SKIN

 

Chemotherapy often results in the flakiness, itchiness, drying, cracking and peeling of skin.

While undergoing chemotherapy, it is best to use a simple, high quality, gentle moisturizer on the face and neck, stay hydrated, drink lots of juices containing antioxidants and avoid prolonged exposure to extreme weather conditions (either too hot or too cold.)

When bathing, make certain water isn't too hot (or too cold.) Following bathing, it helps to dry off gently, patting one's self with a towel, rather than rubbing.  Baby oil is excellent to rub into the skin to revive moisture.  Use mild soaps and laundry detergents to avoid aggravating skin conditions and avoid perfumes with scents.  If bathing becomes painful, sponge bathing is an option.

Lips often become chapped and chaffed and a good lip moisturizer is a Godsend.  Add a good skin treatment moisturizer, such as Aveeno to a tepid bath to alleviate dryness and pain.  Cool wet cloths can also be used to help alleviate pain.

Avoid tanning beds and don't use cosmetics or skin items that have alcohol as an active ingredient.  Alcohol is a drying agent and can aggravate inflammation.

During chemotherapy, skin may appear more transparent and wrinkles and dark spots may appear.  Most of this disappears following completion of chemotherapy, during the months following when the chemical effects dissipate from the body.  Your doctor can prescribe ointments which will remove dark spotting.

Its at this time, that the skin is very sensitive to sunlight, so while undergoing chemotherapy, keep your body covered. It doesn't mean you can't go out into the sun...sunlight is vital and is an important source of very badly needed Vitamin D.  Just remember the skin is very susceptible to burning, so make certain to protect it with sunscreen.

Neuropathy, a side effect from some chemotherapy treatments, causes damage to nerve endings and when serious, can cause sloughing of the skin from the hands, lower legs and the feet. Report this to your doctor immediately, if it occurs.  Gently massage the effected area with creams.  Keep feet clean and covered with warm socks.

Any major skin changes need to be reported to your doctor immediately as they could create lifelong damage.

 

 

 

 

CHEMOTHERAPY AND HAIR

 

Some chemotherapy treatments create a thinning to the hair and cause it to be dry and brittle.

Frequent shampooing is very hard on damaged hair.  To compensate, use a gentle shampoo such as a baby shampoo and reduce of times you shampoo per week to no more than three.  Allow the hair to dry by gently patting it with a towel and if at all possible don't use the blow dryer, hair straightener or curling iron.  They are very harsh on hairs.

If the hair isn't falling out, then there is no problem using hair products, however if it is damaged, its not a good practice and only aggravates the problem.

Perms and hair coloring are not recommended during chemotherapy for at least six weeks following, because of potential scalp and skin irritations.  Chemotherapy affects the root follicles and its not known what the results of perming or coloring of hair could be as the interaction of chemicals could create anything from hair loss to fried, brittle hair, to some interesting colors and waves.

If it appears you may lose your hair, it is easiest to cut the hair short during the process.  You won't wake up in the morning with hair in your mouth or the devastation of seeing clumps of hair laying on the bottom of the shower or floating in the tub.  For emotional sanity, cutting it short is sometimes best. If hair loss has occurred, when outdoors, its best to wear a head covering in the sun and to use sunscreen to avoid sun burn upon the scalp.

There are some interventions some individuals use to try to deter hair loss, while going through chemotherapy.  Be sure and discuss these with your oncologist before attempting:

1.  Some individuals place cold packs upon their head while taking chemotherapy to slow the flow of blood to the follicles so chemotherapy won't destroy the roots of the hair.  The problem with this is the chemotherapy drugs may not reach all the cancers if they are in that specific area , so do not even attempt this without discussing it with your oncologist first.

2.Some individuals use medications marketed for male pattern baldness.  There is no evidence these products work and the concern is they may interact in a negative manner with chemotherapy.  Before considering this, be sure and speak with your oncologist.

Bottom line is we may just need to suck this up and view it as one of the little inconveniences we go through in our quest for life as we define and ask ourselves, "Which is really more important?  Life and the temporary loss of hair or the alternative?   In that context, it really isn't much of an issue, is it?  So, in the grand scheme of it all, "Hair grows back...life goes on...life is good!"

 

Chemotherapy and Nails:

 

Chemotherapy plays havoc with nails.  Often, while undergoing chemotherapy, they will be brittle, won't grow as long and surrounding skin will be dry.  They may be discolored and break easily.

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It is not a good idea to cover nails as it may result in creating an environment that may invite fungus or other problems.  Its best to wait to have nail treatments such as wraps and acrylics done several months following chemotherapy, after it has dissipated from the body as they can often harbor and trap bacteria, leading to infection.

While undergoing chemotherapy, you may notice a line develop across the nail.  This will disappear after chemo leaves your body, following treatment.  If nails are not cracked or broken, its probably okay to paint your nails as long as the nail remover doesn't have acetone as an active ingredient. Acetone can be pretty harsh on fragile nails.

It is easiest to simply keep nails clean, trimmed and short and to use a good hand cream to retain moisture in the skin.


 

ANTI-DISCRIMINATION

State and federal laws exist which prohibit discrimination against individuals with disabilities, including cancers, California having one of the strongest laws in the nation.  Further, federal law has recently expanded to include anti-discrimination laws based upon one's genetic history with legislation known as GINA, the Genetic Information Nondiscrimination Act of 2008, signed into law by President George W. Bush.  It is the first act of federal legislation to protect individuals from discrimination.  Though imperfect, it is a start to resolve issues with insurance companies and employees which create barriers toward testing.

The basic rule is unless one actually has contracted a cancer, discrimination is prohibited by all except for life insurance companies, disability insurance carriers, long termed insurance carriers and the United States military.

There is no protection for individuals who have contracted a cancer, under GINA, however ADA laws may apply for discrimination in the workplace.

Information on current federal anti-discrimination genetic information laws.

Information on the American Disabilities Act and enforcement guidelines

Reports on Genetic Discrimination

Article on GINA

 

If you have questions regarding discrimination or sustain difficulties with insurance companies and coverage, there is help through the Cancer Legal Resource Center in Los Angeles.

The Cancer Legal Resource Center (CLRC) is a national, joint program of the Disability Rights Legal Center and Loyola Law School Los Angeles. The CLRC provides free and confidential information and resources on cancer-related legal issues to cancer survivors, caregivers, health care professionals, employers, and others coping with cancer.

A cancer diagnosis can carry with it a variety of legal issues, including insurance coverage, employment discrimination, access to health care, and estate planning. These legal issues can cause people unnecessary worry, confusion, and stress, and can be overwhelming. When these legal issues are not addressed, people may find that although they have gotten through treatment, they have lost their homes, jobs or insurance.

The CLRC has a national, toll-free Telephone Assistance Line (866-THE-CLRC) where callers can receive free and confidential information about relevant laws and resources for their particular situation. Members of the CLRC's Professional Panel of volunteer attorneys, insurance agents, and accountants can provide more in-depth information and counsel to CLRC callers.

 

 


 

 

 

 

During chemo, you're more tired than you've ever been. It's like a cloud passing over the sun, and suddenly you're out. You don't know how you'll answer the door when your groceries are delivered. But you also find that you're stronger than you've ever been. You're clear. Your mortality is at optimal distance, not up so close that it obscures everything else, but close enough to give you depth perception. Previously, it has taken you weeks, months, or years to discover the meaning of an experience. Now it's instantaneous.

 

~Melissa Bank
 

 

MANAGING TREATMENT

 

This page is primarily links, deferring to other sites, as there is such excellent detailed information on those sites.  Please don't hesitate to contact us with any questions you may have, by writing This email address is being protected from spambots. You need JavaScript enabled to view it. and we will try to find the information you desire.

While going through chemotherapy, side effects often occur.  It is important to keep our immune system strong so we don't catch illnesses and viruses which can affect us and our treatment.

Treatment Options (An excellent article which discusses chemotherapy, radiation and other types of treatment for cancer.

Managing Side Effects (A very comprehensive article with many tips on how to overcome the side effects of some treatments.)

Managing Fatigue  --  and the Myths and Facts About Cancer Fatigue and What You Need To Know

Managing Neuropathy Neuropathy is a common side effect that is often included as part of today's chemotherapy treatments for colon cancer.  With it comes temperature intolerance, pains in the hands, fingers, feet and legs, tingling sensations, numbing sensations, loss of balance and other possible effects.  If it becomes difficult for you, be sure and discuss it with your oncologist who can adjust the dosage of chemotherapy or find an alternative treatment.

Eating Hints Excellent ideas and types of foods that help alleviate nausea.  The biggest bit of advice we found valuable in dealing with nausea was to take the anti-nausea medication prescribed by the physician about two hours before arising, with a piece of toast and a few sips of tea, water or juice.  This prepares the stomach for the daily activity and then when getting up, go ahead and eat.  Again, take the medication about thirty to sixty minutes before dinner and do so at the same time every day.  Scheduling is everything and can help many in a dramatic way for many, if effective planning is conducted.

Chemobrain Chemical brain is one of the most frustrating side effects for active individuals.  This article helps explain what it is and why it happens alleviating fear and concern of its existence.

In order to attempt to control it, many of us play word games to keep the mind vital and busy and do our busy work in the mornings when we need to be fresh in thought. We don't know if this works, but it certainly does provide some reassurance.

The loss of memory can be frightening.  Remember, much of the effects of "chemo brain" disappear within the first year following completion of treatment and almost all go away.  If a lapse of memory occurs or you experience difficulty with navigation, comprehending directions, etc., simply stop, take a deep breath and relax.  What it is you are searching for in your mind will come in most cases...for those of us with chemo brain it just takes a little longer than usual for the memory to function.

Sometimes its easy to set ourselves up for frustration. This is one of those situations where it is ripe to occur. So, try to find ways to lessen the opportunity.  In example, when undergoing chemotherapy sometimes its difficult to follow a movie.  So, watch a television show.  The sequences are shorter and the plots aren't as complicated.  Sometimes reading is difficult. Try reading a few paragraphs at a time and then take a rest, returning to it when the mind refreshes itself.

Don't let chemobrain embarrass you or feel uncomfortable about interacting with others as a result of it. Most people understand chemobrain, especially after it is explained as a temporary side of effect of chemotherapy.  During conversation if you lose the conversation halfway through, apologize and explain you have chemobrain. They'll understand and most often, will help you find the words you need if you give them a definition.

Try and stay away from situations involving stress or conflict.  Chemobrain can occur during those times and that is another time which is ripe for frustration.  The last thing any of us, who are fighting cancers need, is undue stress, frustration or negativity in our lives.  We have choices and the best choice is to stay away from it.  There isn't time for it in our lives.

Nutrition

Prophylactic Surgery to Deter Cancer Surgery to remove tumors and to remove organs which have been attacked by cancers is a common treatment.  It is suggested prophylactic surgery be conducted for the removal of the uterus and the ovaries, following childbearing years due to the extremely high risk of cancer for those who have Lynch syndrome.  The Mayo Clinic has come up with a new surgery, for colon resection, which at the same time, can also remove the female organs, without having to make a major external incision.  This is fascinating new technology which accelerates the rate of recovery for individuals, called natural orifice surgery.

Presentation on Colon Resection

Understanding Cancer Treatment

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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WELCOME TO THE LSI LIBRARY!

Offering a host of resources on Lynch syndrome.

 

 

GUIDELINES:

 

EGAPP Recommendations  Translation Updated July, 2012

Revised Bethesda Criteria, 2004

Amsterdam II Criteria

American College of Gastroenterology Guidelines February 2009

AGA Guidelines for Colorectal Cancer March 2008

Guidelines Tor The Clinical Management Of Lynch Syndrome by Dr. Hans Vasen 2007

Society of Gynecological Oncologists 2007   (More detailed information)

Practice Parameters of Patients with Dominantly Inherited Colon Cancer the American Society of Colon and Rectal Surgeons 2003  Update 2006

Genetic Counseling Considerations In the Evaluation of Families for Lynch Syndrome-A Review - Journal of Genetic Counseling, National Society of Genetic Counselors, Inc. 2010

NCCN Guidelines - Need to Register To Obtain Access

NCHPEG Tools and Guide PDFs  2013

Revised 10/04/2013

 

CLINICAL TRIALS AND REGISTRIES

 

One of the greatest ways we could it pay forward in appreciation for everything those who have cared for us have done in order to enhance our quality of life is to enroll in Cancer Registries and Clinical Trials so future generations may continue to protect their families and save lives.
Please become involved in these activities as they are the most important lifesaving measures taken today.

 

Familial Cancer Registries

 

Lynch Syndrome CAPP3 Aspirin Study, Preparing to Recruit 3,000 Individuals To Determine Daily Dose of Aspirin to Reduce Lynch Syndrome Tumors In Those With Lynch Syndrome.  Register Now for Study Information Once Study Is Released.   Physician Information and Recruitment.

 

Lynch Syndrome Clinical Trials

  1. Johns Hopkins, Clinical Trial PD-1, MK3475, For Patients With Microsatellite Unstable Tumors.  Contact Dung, Le, Primary Investigator
  2. National Institute of Health Clinical Trials - Includes Not Yet Recruiting, Recruiting, In Process and Completed Trials for Lynch Syndrome.
  1. Study by Ohio State University for Cryopreservation of Eggs For Women Undergoing Treatments or Surgeries Which May Affect Fertility
  2. Study by Helen and Harry Gray Cancer Center at Hartford Hospital (Connecticut) regarding Hyperbaric Oxygen and Ability to Improve Erectile Function  Following Surgery for Prostate Cancer
  3. Massachusetts General Hospital - Preoperative Staging of Pancreatic Cancer Using Super Paramagnetic Iron Oxide Magnetic Reasonance Imaging
  4. Pfizer, Institut National du Cancer (France)- Biological, Pathological and Imagery Markers In The First Line Treatment Of Metastatic Clear Cell Renal Cell Carcinoma
  5. Axo-Gen, Vanderbilt Ingram Cancer Center, Nashville, TN  Nerve Reconstruction In Individuals Using Avance In Subjects Who Undergo Robotic Assisted Prostatectomy For Treatment of Prostate Cancer
  6. Eisai, MD Anderson, Houston, TX - Dalteparin for Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients
  7. European Association for Endoscopic Surgery (Italy) - Transanal Endoscopic Microsurgery vs. Endoscopic Submucosal Dissection For Large Rectal Adenomas
  8. Hospital Donostaia, San Sebastian, Spain Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer
  9. Gifu, Japan - Republic of Korea  Comparing Covered Self-expandable Metallic Stent (SEMS) Above/Across the Sphincter of Oddi
  10. Seoul National University Hospital - Cyclooxygenase-2 Inhibitor for Adjuvant Anticancer Effect in Patients With Biliary-pancreas Cancer
  11. Universitaetsspital-Basel - Influence of N-Acetylcysteine on Morbidity, Oxygenation and Cytokine Levels in Partial or Total Esophagectomy for Cancer
  12. Santa Clara Valley Medical Center, San Jose, CA.  Bowel Preparation for Inpatient Colonoscopy
  13. Novartis - Germany  An Open Label, Single Arm Trial to Characterize Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of the First VEGF-targeted Therapy (MARC-2
  14. Medical Center of Fudan University - Shanghai New Adjuvant Chemotherapy of Non Resectable Liver Metastasis of Colorectal Cancer Without Bleeding, Obstruction
  15. David C. Pratt Cancer Center at St. Johns Mercy, St. Louis, Missouri  Stereotactic Body Radiotherapy for Unresectable Pancreatic Cancer - Stereotactic Body Radiotherapy for Liver TumorsStereotactic Body Radiotherapy for Prostate Cancer
  16. Bayer Corporation Study to Observe Safety and Efficacy of Nexavar in Treatment of Kidney Cancer
  17. Buenos Aires, Argentina  Epoetin Alfa (Hemax®) Phase IV Study in Chemotherapy Induced Anemia
  18. West China Hospital at Sichuan University  Effective Study of Preoperative Short-course Radiotherapy for the Advanced Resectable Rectal Cancer
  19. Daniel Stephen Engeler Safety Study of Bipolar Versus Monopolar Transurethral Resection of Bladder Tumors
  20. Case Comprehensive Cancer Center and the Medicis Pharmaceutical Company:  Forehead Scars Following Mohs Micrographic Surgery and Reconstruction for Skin Cancer
  21. Myriad Genetics-Various U.S. Locations  Study Comparing Optimized 5-FU Dosing and Standard Dosing in Metastatic Colorectal Cancer Patients Treated With mFOLFOX6
  22. Odense University Hospital - Denmark CUP Project PET/CT  Applied Early In the Work Up For Metastasizing Of An Unknown Primary Tumor 
  23. Mayo Clinic, Jacksonville, Florida  
  24. Improving Complete Endoscopic Mucosal Resection (EMR) of Colorectal Neoplasia
  25. Bristol-Myers Squibb  First-Line Gemcitabine, Cisplatin + Ipilimumab for Metastatic Urothelial Carcinoma
  26. Novartis - Memorial Sloan Kettering  BKM120 in Metastatic Transitional Cell Carcinoma of the Urothelium
  27. Glaxo-Smith-Klein  Memorial Sloan Kettering  Gemcitabine and Pazopanib in Chemotherapy Naïve Patients With Advanced/Metastatic Urothelial Carcinoma Ineligible for Cisplatin-based Chemotherapy
  28. ImClone  Study of Ramucirumab or IMC-18F1 With Docetaxel or Docetaxel Alone as Second-Line Therapy in Participants With Bladder,Urethra, Ureter, or Renal Pelvis Carcinoma
  29. Sanofi- Aventus  European Organization of Research and Treatment for Cancer. Efficacy of FOLFOX Verus FOLFOX plus Afibercept in K-ras Mutant Patients with Resectable Liver Metastases (BOS3)  

 

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LECTURE AND POWER POINT PRESENTATIONS

 

Power Point Presentation by Dr. Hans Vasen and Dr. Patrick Lynch, Presented At the Insight Conference

Power Point Presentation by Dr. Henry T. Lynch, MD and Jane T. Lynch, BSN  The Extraintestinal Cancers of Lynch Syndrome

Power Point Presentation on MSI - IHC Pathological Tumor Testing

Epidemiology of Colon Cancer, Presented to the San Diego Academy of Family Physicians 11/14/2009

UC San Francisco 2009 Slides  MSI Basics for Pathologists -  Grener

The Power of Sustainable Changes in Diet and Lifestyle by Dean Ornish, M.D., founder and president of the nonprofit Preventive Medicine Research Institute in Sausalito, California. (A one hour plus program courtesy of MD Anderson Cancer Center.)

Lynch Syndrome: Diagnosis and Screening in 2008 Heather Hampel, MS, GCG; Wendy Frankel, MD; Jonathan Terdiman, MD; Roger C. Haggitt Gastrointestinal Pathology Society Session - May 18, 2008

 

ASCO Article Outlining Study of Taking Effective Family Histories

Revised 7/24/2012

 

 

 

CME ACCREDITED CLASSES

Free CME Credits and Classes Through NCHPEG and the AMA - Colorectal Cancer, Is Your Patient At High Risk?

Genetics Cancer Review - Expires 2014 ASCO 1.5 CME Credits  $25 - $32

Preimplantation Genetic Testing - Expires 2014 (Cleveland Clinic)

Harvard Medical School: Genetics - Colon Cancer Expires 7/6/2013

CME Genetics: Colon Cancer (Expires 6/17/2012)  One hour course, 1 CME, intended to teach indiviudals to identify those with Lynch syndrome as well as discusses screening recommendations. Cost: $20

CME Activity: The Lynch Syndrome Up to date education accredited by the American College of Physicians with faculty involving top experts in Lynch syndrome.  Expires 7/19/2013  $260 for one year.

American Medical Association - Identifying and Managing Hereditary Cancer Risk

Genomic Medicine - Family History 1 Credit, Cost $5

Genomic Medicine - Colorectal Cancer

Medscape CME Metastatic Colorectal Cancer Tumor Board (oncologists, surgeons, gastroenterologists, radiologists, interventional radiologists, nurses, pharmacists, and other healthcare professionals who treat and care for patients with advanced/metastatic colorectal cancer.)

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation Alexander F. Jeans, Ian Frayling, Bharat Jasani, Lucy Side, Claire Blesing & Olaf Ansorge

Oncologic Issues through Audio Digest Foundation 1 CME Credit

Updated 10/4/2013

 

 

 

 

National Center for Biotechnology Information (NCBI) Gene Tests - information on anything and everything that is happening with Lynch syndrome research and technology.

Gene Reviews - Hereditary Non-Polyposis Colon Cancer, an excellent, comprehensive resource compiled by Dr. S. Gruber and Wendy Kohmnan, MS of the Cancer Genetics Clinic, Michigan State University, Ann Arbor, Michigan.

Guidelines for the Clinical Management of Lynch Syndrome by Dr H F A Vasen Department of Gastroenterology, Leiden University Medical Centre and The Netherlands Foundation for the Detection of Hereditary Tumours

This email address is being protected from spambots. You need JavaScript enabled to view it., 6116 Executive Boulevard, Bethesda, Maryland 800-422-6347   Psychosocial Issues in Hereditary Colon Cancer Syndromes

Modified 7/25/2011



 

 

PUBLICATIONS

 

 

Risks Of Primary Extracolonic Cancers Following Colorectal Cancer In Lynch Syndrome  Sept. 2012

 

Daily Long Termed Aspirin Use In Lynch Syndrome Carriers Reduces Colorectal Cancers England study conducted by Sir John Burn indicates consistent long termed aspirin use (mean 25 months) at 600 mg a day significantly reduces primary colorectal cancers in those with Lynch syndrome.  Substantiates new study to determine effective dosage.

 

Aspirin Confers Long Term Protective Effect in Lynch Syndrome Patients, Jacqueline K. Beels, Phd.

 

From the Lancet - Effects of Regular Aspirin On Long Term Cancer Incidence and Metastasis 5/2012

 

Finnish Researchers ConcludeStudy on LS Mortality

 

9/5/2012  Multi national study in Spain and in Holland indicates cancer-affected LS patients with the AA genotype have shorter telomeres than those with GG and MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.  

 

1/2013  Collaborative study on genetic testing on first degree relatives (FDRs): Genetic testing may be underutilized by FDRs at risk for LS. The economic feasibility of screening persons with CRC for LS depends on optimizing family-wide uptake of genetic testing. Future research and clinical efforts should focus on ways to overcome barriers to genetic testing.


DIAGNOSIS AND MANAGEMENT

 

Guidelines intended to assist physicians and medical professionals in understanding  and diagnosing Lynch syndrome developed by the National Society of Genetic Counselors and the Collaborative Group of the Americas-- Addresses germline testing and targeted presumptive testing of tumors  12/2011 (Cost)

Diagnostic Approach and Management of Lynch Syndrome - American Cancer Society

Lynch Syndrome: Barriers to and facilitators of screening and disease management, Hered Cancer Clin Pract. 2011 Sep 7;9:8 addresses a Canadian study which concludes persons with Lynch syndrome experience multiple barriers to disease management and the necessity of a coordinated system of local services capable of providing integrated, efficient health care and follow-up.

The Family History Score Tool Identifies High Risk Families for Colorectal Cancer, from the Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA andThe Sanford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio 44195, USA 5/25/2010

Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome:  Gastroenterology 2009 - Largest study, to date, on the high lifetime risk of cancers of those affected by Lynch Syndrome.

Genetics in Medicine: March/April 2003 - Volume 5 - Issue 2 - pp 84-91 The genetic family history as a risk assessment tool in internal medicine Frezzo, Theresa M. MS; Rubinstein, Wendy S. MD, PhD; Dunham, Daniel MD, MPH; Ormond, Kelly E. MS Methods: Seventy-eight patients seen in a division of internal medicine were randomized into two groups, which completed a questionnaire or underwent a pedigree interview. Chart notes were compared to both study tools. Results: Sixty-two (79.5%) of the 78 participants scored at increased risk for at least one category. Either of the two study tools found significantly more people at high risk (48/78, 61.5%) than the chart review (31/78, 39.7%) (P = 0.01) Conclusions: Approximately 20% of patients in an unselected internal medicine practice were at an increased risk that was not documented in reviewed chart notes. Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.

Genetics Home Reference from Gene Tests from the National Institute of Health.

Lynch Syndrome: Still Not A Familiar Picture, by Hess Fredrick From the World Journal of Surgical Oncology a very nice article articulating the misunderstanding many physicians still have in the diagnosis of Lynch syndrome

The Role of Genetic Assessment in Determining a Patient's Risk (for Physician Assistants) Michael A. Rackover PAC MS and Doug Scott MS  - Journal of the American Academy of Physician Assistants

Genetics in Medicine:  May 2007 - Volume 9 - Issue 5 - pp 290-297  doi: 10.1097/GIM.0b013e31804b45db  The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing  Conclusion:  Long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis cancer mutations.

From Genetics in Medicine:  May 2007 Volume 9 Issue 5  pp 290-297    The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing Collins, Veronica R. Phd; Meiser, Bettina PhD; Ukoumunne, Obioha C PhD; Gaff, Clara PhD; St John, D. James MD; Halliday, Jane L. PhD  Conclusion:  Long term data indicates appropriate screening and improved psychological measures for non-carriers, with no evidence of undue psychological distress in carriers of Lynch syndrome.

From Genetics in Medicine, October 2009 Volume 11, Issue 10, pp 728-734 Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: A pilot study; Ersign, Anne L. PhD; Williams, Janet K. PhD; Hadley, Donald W. MS, CGC; Koehly, Laura M. PhD  Conclusion:  Respondents who communicated about risk and received encouragement to screen from a great proportion of named family members and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy.  Identifying patterns of interaction within at risk families, regardless of gene mutation satus, may be one avenue for promoting screening adherence.

History and Molecular Genetics of Lynch Syndrome in Family G - A Century Later ---- JAMA  Julie A. Douglas PhD, Stephen B. Gruber MD Phd, Karen A. Meister MS CGC, Joseph Bonner MS , Patrice Watson Phd, Anne Krush MS, Henry T. Lynch MD  Conclusion:  Within the last decade, molecular diagnostic testing has transformed the care of Family G and other Lynch syndrome families in which a pathogenic mutation has been identified.

Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome, Kathleen M. Schmeler, MD, Henry T. Lynch, MD, Lee-May Chen, MD, Mark F. Munsell, MS, Pamela T. Soliman, MD, Mary Beth Clark, MSW, Molly S. Daniels, MS, Kristin G. White, BS, Stephen G. Boyd-Rogers, RN, Peggy G. Conrad, MS, Kathleen Yl Yang, MD, Mary M. Rubin, PhD, Charlotte C. Sun, Dr.PH, Brian M. Slomovitz, MD, David M. Gershenson, MD and Karen H. Lu, MD  Conclusion:  Findings suggest that prophylactic hysterectomywith bilateral salpingo-oophorectomy is an effective strategyfor preventing endometrial and ovarian cancer in women withthe Lynch syndrome.(Since publication, it has been noted by MD Anderson there have been a few cases of endometrial cancer despite hysterectomy, however the conclusion remains the same.)

Risk Assessment, Genetic Testing, and Management of Lynch Syndrome - Shilpa Grover, MD, MPH and Sapna Syngal, MD MPH, Boston, Massachusetts

Prospective Screening for Lynch Syndrome In a Cohort of Colorectal Cancer Surgical Patients in a Community Hospital:  Albuquerque and Presbyterian Hospital, Albuquerque, NM  Conclusion:  A screening protocol for detecting LS in newly diagnosed CRC patients using MMR assessment identified LS in at least 8% of screened patients and in at least of 2.0% of all CRC resected. Clinical suspicion misses a significant proportion of patients who have LS. This protocol is a significant step forward in the timely identification of LS in a community hospital setting.

Diagnosis and Management of Hereditary Colorectal Cancer Syndromes: Lynch Syndrome As A Model, Henry T. Lynch

NationalCenterfor Biotechnology Information (NCBI) Gene Tests  providing information on anythingand everything that is happening with Lynch syndrome research and technology.

12/13/2010 Netherlands study indicates individuals with LS are good candidates for chemo prevention.  The response of MMR-Deficient tumors to standard chemotherapy and radiotherapy differs from that of MMR-proficient tumors.  Efforts should be directed toward designing tailored strategies concerning both chemo prevention and medical cancer treatment for individuals affected with Lynch syndrome.

A excellent study from Kaiser Permanente and the Marshfield Clinic regarding theunderdiagnosis of Lynch Syndrome.  May 2012

A study from Canada assessing the barriers to diagnosis and management of Lynch syndrome:  Lynch Syndrome Barriers To and Facilitators of Screening and Disease Management  9/2011Hereditary Cancer in Clinical Practice 2011doi:10.1186/1897-4287-9-8


THE CANCERS

 

The Risk of Extracolonic Primary Cancers Following Colorectal Cancer in Lynch Syndrome  An international study of 764 carriers of Lynch syndrome.  September, 2012

Colorectal And Other Cancer Risks For Carriers and Non-Carriers From Families With A DNA Mismatch Repair Gene Mutation - A Prospective Cohort Study/  An International Study That Is a Must Read Discussing the Risks of Specific Cancers of Lynch Syndrome And One Of The First Comprehensive Studies On The Risk of Breast Cancer Within Lynch Syndrome

MD Anderson studies the spectrum of Lynch syndrome cancers. determining those with LS can present with cancers outside the spectrum of LS.  A good paper citing information that may be helpful for diagnosis and screening for patients with Lynch Syndrome.  6/20/2012


SPECIFIC CANCERS

 

BIALLELIC MUTATIONS

UT Southwest article regarding important information on biallelic mutations

Canadian study describes a novel biallelic condition  10/2012

 

BLADDER CANCER, URETER CANCER, RENAL PELVIS CANCERS

 

  1. 7/25/2012  A study from Canada sends a strong message: . MSH2 carriers should be offered screening for cancer of the entire urothelium, as they are at an increased risk for both bladder AND upper tract cancers
  2. Risk of Urothelial Bladder Cancer In Lynch Syndrome Is Increased, In Particular, Among MSH2 Mutation Carriers JMedGenet2010  Netherlands Study, Radboud University
  3. From Pubmed:  Reviews in Urology: 2003 Winter 5(1) 49-53    Urothelial Carcinoma in a Man with Hereditary Nonpolyposis Colon Cancer, by Dean L. Lenz, MD and Lewis E. Harpster, MD, Department of Surgery, Division of Urology, Pensylvania State University, Milton S. Hershey Medical Center, Hershey, Pennsylvania. Synopsis:  HNPCC should be considered in any individual with a developed upper tract urothelial cancer or a suggestive family history.
  4. Risk for Urologic Cancer Linked to Risk for Colorectal Cancer WebMD CME Library
  5. Upper Urinary Tract  Carcinoma In Lynch Syndrome Cases - Swedish study of U.S. participants from Creighton University data.  Majority of participants had MSH-2 and sustained ureter cancer a mean 15.8 years after a primary cancer.  Median age was 62.  Equal gender ratio and high grade tumors similar to that in the geneal population.
  6. A Study From France:  21.3% Of All Upper Urinary Tract Urothelial Carcinomas May Have Underlying Lynch Syndrome As a Cause. 6/15/2012
  7. Impact of Distal Ureter Management on Oncologic Outcomes Following Radical Nephroureterectomy for Upper Tract Urothelial Carcinoma   Collaborated letter on the gold standard for urinary tract urothelial carcinoma.  July 2012

 

 

BREAST CANCER

 

  1. 8/21/2012  Dr. James Ford of Stanford University addresses the question, "Is Breast Cancer A Part of Lynch Syndrome?"  A "Must Read" for genetic counselors and medical professionals 
  2. Evidence of Breast Cancer As An Integral Part Of Lynch Syndrome   Swiss study of six families of hundreds of persons with 92 female mutation carriers with MLH1 and MSH2 mutations, mean age 49 to 50 years old, consistent with the mean cancer rate of the average population (56.5 years of age) MSI present in 26 of 37 (70.3%) and altered MMR expression in 16 of 22 (72.7%) Lynch syndrome carriers.  Conclusion was findings presented a strong molecular evidence for a pivotal role of MMR deficiency in breast cancer development in Lynch syndrome.  10/27/2011
  3. Lynch Syndrome-Associated Breast Cancers:  Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry Walsh, Buchanan, Cummings, Pearson, Arnold, Clendenning, WAlters, McKeone, Spurdle, Hopper, Jenkins, Phillips, Suthers, George, Goldblatt, Muir, Tucker, Pelzer, Gattas, Woodall, Parry, Macrae, Haile, Baron, Potter, LeMarchand, Bapat, Thibodeau, Lindor, McGuckin, Young Authors' Affiliation: Familial Cancer Laboratory, Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, University of Queensland School of Medicine, University of Queensland Centre for Clinical Research, Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Mater Medical Research Institute, South Brisbane, Queensland, Australia; School of Population Health, Centre for MEGA Epidemiology, University of Melbourne, Melbourne, Australia; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia; South Australian Clinical Genetics Service, North Adelaide, Department of Paediatrics, University of Adelaide, South Australia, Australia; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, School of Paediatrics and Child Health, University of Western Australia, Nedlands, Western Australia, Australia; Clinical Genetics Service, Prince of Wales Hospital, Randwick, New South Wales, Australia; Northern Regional Genetics, Auckland Hospital, University of Auckland, Auckland, New Zealand; Keck School of Medicine, University of Southern California, Los Angeles, California; Dartmouth Medical School, Hanover, New Hampshire; Fred Hutchinson Cancer Research Center, Seattle, Washington; Cancer Research Center of Hawaii, University of Hawaii at Manoa, Honolulu, Hawaii; Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Canada; and Mayo Clinic, Rochester, Minnesota.
  4. Unusual Presentation of Lynch Syndrome London Study 2009, Male Breast Cancer
  5. Lynch Syndrome Associated Breast Cancers - Clinicopathological Characteristics Of A Case Study From The Colon Cancer Registry - David Walsh, MD, Familial Cancer Laboratory Queensland  51% of all breast cancers in individuals with Lynch syndrome indicated MMR deficiency.  Breast cancer may therefore represent a valid tissue option for the detection of MMR deficiency in which spectrum tumors are lacking.
  6. Early Onset Breast Cancer In A Lebanese Family With Lynch Syndrome Due to MSH-2 Gene Mutation, Rizk Hospital, Beirut, Lebanon 5/28/2009
  7. Lynch Syndrome- The Influence of Environmental Factors On Extracolonic Cancer Risk on hMLH1 C.c1528T Mutation Carriers and Their Mutation Negative Sisters South Africa Study - Extracolonic cancer occurred in 14 percent of the mutation carrier females. Breast cancer was the most extracolonic cancer.
  8. Colorectal And Other Cancer Risks For Carriers and Non-Carriers From Families With A DNA Mismatch Repair Gene Mutation - A Prospective Cohort Study/  An International Study That Is a Must Read Discussing the Risks of Specific Cancers of Lynch Syndrome And One Of The First Comprehensive Studies On The Risk of Breast Cancer Within Lynch Syndrome
  9. J Clin Oncol 30, 2012 (suppl 4; abstr 413) Breast Cancer In Irish Families With Lynch Syndrome Breast cancer occurred at an early age and was more common than prostate cancer in Irish Lynch Syndrome pedigrees. All reported breast cancer cases were in kindreds with MSH2 or MSH6 mutations. Enhanced breast cancer screening may be warranted in certain Lynch Syndrome kindreds.
  10. Breast Cancer and South African Females, 2010, Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.  Breast cancer was double that of those studied without mutations.

 

 

COLORECTAL CANCER/SMALL INTESTINE

 

  1. Small Bowel Adenocarcinoma Phenotyping, a Clinical Prognostic StudySuggests molecular alterations in small bowel adenocarcinomas (SBA) are closer to those in colorectal cancer (CRC) than gastric cancer, with low levels of HER 2 overexpression and high frequencies of KRAS mutations. Seemingly higher frequency of MMR deficiency (dMMR) than in CRC may be explained by higher frequency of LS in SBA patients. A dMMR phenotype was significantly associated with a non-metastatic tumour (P=0.02). A trend for a good prognosis and a duodenum or jejunum primary site was associated with dMMR.British Journal of Cancer advance online publication, 5 November 2013; doi:10.1038/bjc.2013.677 www.bjcancer.com.
  2. 6/2012  University of Groeningen, Netherlands, discusses small bowel surveillance for Lynch syndrome.  Recent data indicates capsule endoscopy shows promising results for those with Lynch syndrome and who have a 5% lifetime risk of contracting small bowel cancer.
  3. Parent of Origin Effects On Age At Colorectal Diagnosis Large collaborated study of many institutions concluded affected daughters of affected fathers were, on average, younger than affected sons of affected mothers.  Results need confirmation in an independent study before cliinical significance can be determined.
  4. Distinct Mutations in MLH1 And MSH2 Genes in Hereditary Non-Polyposis Colorectal Cancer HNPCC Families From China
  5. 1/2011 According to Aukland, New Zealand study, individuals with more extensive colonic  resections have a lower risk of metastasized cancers than those receiving less extensive resections.
  6. DNA Repair System Affects Colon Cancer Recurrence and Survival - Mayo Clinic Study data of more than 2,000 clinical trial patients who had Stage 2 and Stage 3 cancers, and were treated with 5FU chemotherapy protocol, concluded patients with mismatched repair had lower rates of tumor recurrence, longer remissions, fewer metasteses and better survival rates compared to those without defects.
  7. 12/2010 Expeditious colonoscopy following discovery of mutation status in patients may benefit newly identified mutation carriers by addressing objective risks for cancer and alleviating underlying emotional distress responses to genetic risk information.
  8. Impact of Colonoscopy Screening On Individuals At High Risk for Hereditary Nonpolyposis Colorectal Cancer HNPCC  Spain - Conclusion, Colonoscopy is effective in detecting colorectal adenomas and cancer in individuals with HNPCC - Men have a greater number of colorectal adenomas  2011
  9. The Impact Of Colonoscopy Screening In Male And Female Lynch Syndrome Carriers With An MSH-2 Mutation A study from Newfoundland Canada  Study of repeat cancers between screening intervals. Within two years of a colonoscopy, 20% of the males and 7% of the females developed an interval of CRC.  CRC development may further be reduced by decreasing the interval to one year and improving quality of colonoscopy.
  10. Infiltration Of Lynch Colorectal Cancers By Activated Immune Cells Associates With Early Staging Of The Primary Tumor And Absence Of Lymph Node Metastases Leiden University Medical Center, 1/18/2012  Conclusion:  The immune system assumes an important role of counteracting the progression of Lynch colorectal cancers and in selecting abnormal HLA Class I phonetypes.  Findings support the development of clinical strategies that explore the hosts natural anti-tumor immune responses.
  11. Colonoscopic screening at 3-year intervals more than halves the risk of CRC, prevents CRC deaths, and decreases overall mortality by about 65% in HNPCC families.Controlled Fifteen Year Trial on Screening For Colorectal Cancers In Families With Hereditary Polyposis Colorectal Cancer. May 1, 2000  Helsinki University Central Hospital, Helsinki
  12. Colonoscopic surveillance reduces the risk of colorectal cancer in people with a strong family history. This study confirms that members of families with hereditary non-polyposis colorectal cancer require surveillance with short intervals. Prevention of Colorectal Cancer By Colonoscopic Surveillance in Individuals With A Family History of Colorectal Cancer: 16 Year Prospective Follow Up Study Family Cancer Group, Cancer Research UK Colorectal Cancer Unit, St Mark's Hospital, Harrow, Middlesex HA1 3UJ.  BMJ  11/5/2005
  13. 1/2013  Rectal Cancer and the Lynch syndrome: ...less common than colon cancer,RC is an important component of LS and may be overrepresented in MSH2 mutation carriers. Given high risk of synchronous or metachronous cancers, appropriate surveillance for second malignancies is necessary.

 

ENDOMETRIAL, CERVICAL AND UTERINE CANCERS

  1. Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome In the Index Case or Her Relatives  (Allison Stewart, PhD, CDC Consultant)  9/16/2013

  2. Risk of Colorectal Cancer after Diagnosis of Endometrial Cancers:  A Population-Based Study article by Science Daily  October, 2012
  3. 7/2012  From Advances in Anatomic Pathology:  The risk of gynecologic malignancy in women with LS approaches and even exceeds that of CRC. Gynecologic malignancies are often the sentinel cancers in these patients.  Article reviews the morphologic and clinical features/schemas in LS EC and highlight limitations of restrictive aged-based screening strategies, uncertainty in current clinical schemas and equivocal results of morphologic studies of LS EC. With uncertainty of histologic and clinical schemas, and following developments in CRC, reflex testing of all/vast majority of newly diagnosed EC for LS should be considered.
  4. 8/2012  From the Archives of Gynecology and Obstetrics, study reinforces endometrial sampling is essential for women with Lynch syndrome.
  5. 8/2012  From Obstetrics and Gynecology:  Genetic Testing for Lynch Syndrome, An Inherited Cancer of the Bowel, Endometrium and Ovary  - Very nice article with good forms for taking family histories and a nice graph of a standard management plan.
  6. Molecular Analysis of endometrial pathogenesis in Lynch syndrome, J Clin Onco 29 2011, MD Anderson, Ottawa University, concluded hyperplasia is part of the pre-invasive spectrum of LS associated EC.  While PTEN loss was common in both LS and sporadic EC, PIK3CA and CTNNB1 mutations were more frequent in sporadic EC than LS EC. Our results indicate that loss of PTEN expression is an early event in sporadic EC and that other common mutations in sporadic EC may have a lesser role in LS associated EC development.
  7. Association of Lynch Syndrome and Risk of Invasive Cervical Cancer, 2010 ASCO Conference, J Clin Oncol 28:15S 2010  Conclusion:  Cervical cancer is associated with Lynch syndrome and the histology of cervical cancers in MMR mutation carriers may vary from expected population standards.
  8. Primary Peritoneal Cancer After Bilateral Salpingo-Oophorectomy in Two Patients With Lynch Syndrome. Schmeler, Kathleen M, MD, Daniels, Molly S; Soliman, Pamela T, MD MPH;  Broaddus, Russel R, MD PhD; Deavers, Michael T. MD; Vu, Thuy M. MS; Chang, George J. MD, MS; Lu, Karen H. MD
  9. Endometrial Cancer and Lynch Syndrome, Moffit Hospital, MD Anderson
  10. Risk Reducing Surgery in Women At Hereditary Risk of Gynaecological Cancer Czech study, 6/2011  Risk reducing Salpingo Oopherectomy or Hysterectomy is the most effective strategy for gynecological cancer prevention in susceptability gene mutation carriers so far.
  11. Risk of Endometrial Cancer For Women Diagnosed With HNPCC Related Colorectal Carcinoma - Conclusion:  One quarter of women diagnosed with Lynch Syndrome associated CRC developed EC within ten years.  University of Queensland 12/1/2010
  12. Testing Women With Endometrial Cancer To Detect Lynch Syndrome, University of British Columbia 6/2011  Women may not be identified by Amsterdam 2 criteria.  IHC triage at any age, having at least 1 FDR, with a Lynch associated cancer, is a cost effective strategy for detecting Lynch syndrome.
  13. US/Canadian study recommends reflex testing for all endometrial cancers. 7/2012
  14. Researchers Propose Screening For Lynch Syndrome In All Patients With Newly Developed Endometrial Cancer 4/2011
  15. Hysteroscopy In Diagnosing Lynch Syndrome  Endometrial Cancer Screening In Patients With Lynch Syndrome  J Clin Oncol 29: 2011 (suppl; abstr 5108)
  16. Association of Lynch Syndrome and Invasive Cervical Cancer  J Clin Oncol 28:15s, 2010 (suppl; abstr 1501)

 

OVARIAN CANCER

 

  1. 7/6/2012  Newfoundland study indicates gynecological screening did not result in earlier gynecologic cancer detection and despite screening two young women died from ovarian cancer suggesting that prophylactic hysterectomy with bilateral salpingo-oophorectomy be considered in female mutation carriers who have completed childbearing.
  2. A Swedish and Danish study indicated ovarian cancer with Lynch syndrome presents at young age with early non-serous tumors indicating a family history of colorectal and endometrial cancers should be specifically considered in such cases.
  3. Ovarian Cancer Linked To Lynch Syndrome Typically Presents as Early Onset Non-Serous Epithelial Tumors  Gynecol Oncol. 2011 Jun 1;121(3):462-5. Epub 2011 Mar 9.
  4. Endometrial and Ovarian Cancer Screening and Prevention In Women With Lynch Syndrome 
  5. 11/31/2012  Prevalence of loss of expression of DNA mismatch repair proteins in primary epithelial ovarian tumors  Study demonstrated the loss of MMR protein expression in 10.1% of endometriosis-associated ovarian carcinomas. 

 

PANCREATIC CANCER

 

  1. Risk of Pancreatic Cancer In Lynch Syndrome Families 2009, JAMA  Dana Farber, Michigan State, Conclusion:  The risk of pancreatic cancer is eight times higher than the risk of the general population
  2. Lynch Syndrome Tied to Breast and Pancreatic Cancer 2/21/2012
  3. Hereditary, Pancreatic and Hepatobiliary Cancers  International Journal of Oncology 2011  Paper discussing the risk and studies regarding pancreatic cancer and Lynch syndrome

 

PROSTATE CANCER

 

  1. From the American Journal of Medical Genetics, Part A, Vol 121A Issue 2, Pgs 159-162, pub 3/26/2003, European researchers publish case study of prostate cancer in Lynch syndrome.
  2. Prostate Cancer Found In Lynch Syndrome Patient
  3. Neuendocrine type prostatic adenocarcinoma with microsatellite instability in a patient with Lynch syndrome December of 2010, University of Nebraska Medical Center, Findings suggested HGPIN-NE is a percursor of invasive SCC and also that prostatic SCC can develop in a patient with Lynch syndrome.
  4. Hereditary Prostate Cancer As A Feature of Lynch Syndrome U. Of Mich, Ann Arbor, 3/2011  35 tumors underwent MSI Analysis, 2 of which were MSI high and 1 of which was MSI-low. Conclusion: PCa may arise in Lynch syndrome due to defective DNA mismatch repair.
  5. Hereditary, Pancreatic and Hepatobiliary cancers  - International Journal of Oncology, 2011  Paper discussing risk and studies regarding pancreatic cancer and Lynch syndrome.

  6. Manchester UK study discovers a ten fold risk of prostate cancer has been determined with MSH2.  Other significant findings are also noted.  

  7. Ohio State Study: Prostate cancer incidence was not increased in this relatively large cohort of LS patients.

 

SKIN CANCER/MUIR TORRE/TURCOT SYNDROME/GLASTIOBLOMA

 

  1. 8/6/2012  Dr. Maxwell Fung, University of California - Davis, discusses IHC - MSI testing of tumors for Muir Torre  
  2. 2012 Article, University of California-Davis, Mt. Sinai Dermatology Online  Muir Torre - Turcot Syndrome overlap?
  3. 8/2012  MSH-6 Family Detected With Muir Torre
  4. 7/2012  Mismatch Repair Protein Deficiency Is Common In Sebaceous Tumor Neoplasms
  5. 7/2012  Polypoid Adenoid Carcinoma Detected in the Efferent Jejunal Loop following gastrectomy in a Muir Torre Patient.  
  6. Acute Myloid Leukaemia Associated With Muir Torre Variant Of Hereditary Non Polyposis Colon Cancer (HNPCC) "Implications for inherited and acquired mutations in DNA mismatch repair genes  9/13/2011 British Journal of Haematology , Volume 156, Issue 2, January 2012
  7. Glastiobloma Multiforme In the Muir Torre syndrome: From Johns Hopkins
  8. A New Mutation In Muir Torre Associated With Familiar Transmission Of Different Gastrointestinal Adenocarinomas - Hungary
  9. The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families: Christopher D. South , Heather Hampel , Ilene Comeras , Judith A. Westman , Wendy L. Frankel , Albert de la Chapelle, JNCI Journal of the National Cancer Institute Advance Access published February 12, 2008  
  10. Italian Researchers have discovered prevelance of Muir Torre associated with the liver in a Lynch syndrome family.
  11. From the Journal of the National Cancer Institute, Volume 100, No. 4, pp 277-281, published online 2/12/2008 by the Oxford University Press is of Muir-Torre Syndrome Among Lynch Syndrome Families bythe Division of Gastroenterology, Hepatology and Nutrition (CDS), Department of Pathology (WLF), and theHuman Cancer Genetics Program, Comprehensive Cancer Center (HH, IC, JAW, AdlC), of the Ohio StateUniversity-Columbus, OH;  specifically, Christopher D. South, Heather Hampel, Ilene Comeras, Judith A. Westman,Wendy L. Frankel and Albert de la Chapelle.
  12. From the Journal of Investigative Dermatology 7/6/2006, an excellent, comprehensive article on Muir Torre
  13.  Screening for Muir-Torre Syndrome Using Mismatch Repair Protein Immunohistochemistry of Sebaceous Neoplasms. IHC testing not recommended unless a personal history or family history of colorectal cancer exists   12/2012

  14. Brain Cancer and the Lynch Syndrome,Genetics Department, University of Helsinki, Finland,  September 2012

  15. Anaplastic oligodendroglioma in an adolescent with lynch syndrome, 12/19/2012  Queensland, Australia

  16.  

THYROID, FIBROUS HISTIOCYTOMA, SARCOMAS, NEUROENDOCRINE TUMORS  AND CORTICAL CARCINOMA

 

  1. 7/11/2012  University of Padova, Padua Italy study concludes soft tissue sarcomas could be included In the spectrum of Lynch syndrome, that even if rarely, depend on MMR genes deficiency
  2. Unusual tumors associated with hereditary nonpolyposis colorectal cancer syndrome dated 2004 by MD Anderson concludes individuals with younger onset adrenal cortical carcinoma and anaplastic thyroid carcinoma should be tested for Lynch syndrome.
  3. Malignant Fibrous histiocytoma is a rare Lynch syndrome associated tumor in two German families: German study from Biomedical Research Laboratory, Johann Wolfgang-Goethe University, Frankfurt, Germany, dated 5/20/2011 concludes two patients within two different families with MSH-2 sustained a malignant fibrous histiocytoma.
  4. Sarcomas Associated With HNPCC, according to a study at the Clinical Research Center, Copenhagen, Denmark, dated 1/8/2009 .
  5. Thyroid Cancer In A Patient With A Germline In An MSH-2 Mutation.  Case report and Review Of The Lynch Syndrome Expanding Tumour Spectrum  Netherlands Observation
  6. Sloan Kettering Study --- Discussion of Unusual Cancers in Lynch Syndrome Including:  Peritoneal Mesothelioma; Pancreatic Neuroendocrine Tumor, Pancreatic Acinar Cell Carcinoma, and adrenalcortical carcinoma  7/2012
  7. Fibrous Histiocytoma discovered in two German families with MSH2.  (2038   and 932 +-  +3A >T)  Conclusion...Data further support that patients with Lynch syndrome are at increased risk for rare tumors such as MFH. However, the prognosis compared to sporadic MFH seems to be favorable.  9/2011
  8. A Molecularly Confirmed Neuroendocrine Tumor in Lynch Syndrome, Washington University, St. Louis, MO 7/2012

THE MUTATIONS

  1. Inversion of Exons 1-7 of MSH2 Gene Is A Frequent Cause of Unexplained Lynch Syndrome In A Local Population 10/11/2013
  2. MSH2 Mutation Carriers Presents With More Extracolonic Cancers, than MLH1 Mutation Carriers.  10/10/2013
  3. Constitutional Mismatch Repair Deficiency Syndrome-Biallelic Condition:  Diversity of the clinical presentation of the MMR gene biallelic mutations  9/26/2013
  4. MSH6 Cancer Risk:  Laura Baglietto, Noralane M. Lindor, James G. Dowty, Darren M. White, Anja Wagner, Encarna B. Gomez Garcia, Annette H. J. T. Vriends, Dutch Lynch Syndrome Study Group, Nicola R. Cartwright, Rebecca A. Barnetson, Susan M. Farrington, Albert Tenesa, Heather Hampel, Daniel Buchanan, Sven Arnold, Joanne Young, Michael D. Walsh, Jeremy Jass, Finlay Macrae, Yoland Antill, Ingrid M. Winship, Graham G. Giles, Jack Goldblatt, Susan Parry, Graeme Suthers, Barbara Leggett, Malinda Butz, Melyssa Aronson, Jenny N. Poynter, John A. Baron, Loic Le Marchand, Robert Haile, Steve Gallinger, John L. Hopper, John Potter, Albert de la Chapelle, Hans F. Vasen, Malcolm G. Dunlop, Stephen N. Thibodeau, Mark A. Jenkins  Conclusion: For MSH6 mutation carriers, the estimated cumulative risks toages 70 and 80 years, respectively, were as follows: for colorectalcancer, 22% (95% confidence interval [CI] = 14% to 32%) and44% (95% CI = 28% to 62%) for men and 10% (95% CI = 5% to 17%)and 20% (95% CI = 11% to 35%) for women; for endometrial cancer,26% (95% CI = 18% to 36%) and 44% (95% CI = 30% to 58%); andfor any cancer associated with Lynch syndrome, 24% (95% CI =16% to 37%) and 47% (95% CI = 32% to 66%) for men and 40% (95%CI = 32% to 52%) and 65% (95% CI = 53% to 78%) for women. Comparedwith incidence for the general population, MSH6 mutation carriershad an eightfold increased incidence of colorectal cancer (HR= 7.6, 95% CI = 5.4 to 10.8), which was independent of sex andage. Women who were MSH6 mutation carriers had a 26-fold increasedincidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to38.7) and a sixfold increased incidence of other cancers associatedwith Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7).
  5. 8/5/2012  Cancer Risks of the Danish MLH1 Mutation of Lynch syndrome
  6. Fibrous Histiocytoma found in two German Families with MSH2 - 2038C and MSH2 932 +- 3A >_ T.   Conclusion....Data further support that patients with Lynch syndrome are at increased risk for rare tumors such as MFH. However, the prognosis compared to sporadic MFH seems to be favorable.  9/2011
  7. China study detects esophaegal cancer risk as a result of polymorphism of MSH-2 and WRN  12/2011
  8. Malignant Fibrous Histicytoma detected in German Families with MSH2, Exon 13  12/2011
  9. Cancer Risks Teased Out In Lynch Syndrome - French study assessed 537 families with MSH1, MSH2 and MSH6 gene mutations to determine risk by age, tumor and other factors.  Conclusion:  Risks were higher in families with MSH1 and MSH2 had higher risks of cancer and the risk in MSH6 was lower and cancers ordinarily orginated at a younger age
  10. Lynch Syndrome TACSTD1 Family with Predominant Colorectal Cancer:  J Clin Oncol 28:15S, 2010 Germline mutations cannot be found in MMRs MLH1 and MSH2  in about 30% of families satisfying the Amsterdam Criteria. Recently, deletions in the TACSTD1 gene have been identified as a cause of LS.  Conclusion:  Identification of these mutations as a cause of LS allows family members to identify their cancer risk, receive genetic counseling and obtain annual surveillance management.  HT Lynch and Others;  Conclusion: Identification of TACSTD1 mutations as a cause of LS has important cancer control implications for this and other LS families thereby enabling family members to identify their cancer risk, receive genetic counseling, and enroll in an appropriate cancer surveillance/management program. Extracolonic cancer risk may be decreased in TACSTD1 mutation carriers but this will require further confirmation
  11. Risk of Colorectal and Endometrial Cancers in EPCAM Deletion-Positive Lynch Syndrome: A Cohort Study Netherlands  1/2011  EPCAM Deletion Carriers have a high risk of colorectal cancer and only those with deletions extending close to MSH2 have an increased risk of endometrial cancer.
  12. Epcam Deletion Carriers Constitute A Unique Subgroup of Lynch Syndrome Patients, Netherlands  12/23/2012  Discusses EPCAM deletions, how the size and location of the gene may affect the risk of cancer... 
  13. Determining the Frequency of De Novo Germlike Mutations in DNA Mismatch Repair Genes
  14. The Clinical Phenotype of Lynch Syndrome Due to Germline PMS2 Mutations Excellent study explaining in depth the clinical characteristics ofPMS2 mutation carriers, which has not been explored in depth up until this point. by Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center Columbus, Ohio Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John’s, Newfoundland Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington Karolinska Institute, Department of Molecular Medicine, Stockholm, Sweden Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota Queensland Institute of Medical Research, Brisbane, Queensland, AustraliaAdult Clinical Genetics, The University of Melbourne, Victoria, Australia Centre for MEGA Epidemiology, School of Population Health, The University of Melbourne, Victoria, AustraliaJournal of the National Cancer Institute, 2010 102(3):193-201; doi:10.1093/jnci/djp473
  15. Germline Analysis of the hPMS2 Gene in Chinese Families With HNPCC 8/2012
  16. Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
  17. From the Journal of the National Cancer Institute, Risks of Lynch Cancers for MSH6 Mutation Carriers Conclusion: We have obtained precise and accurate estimates of both absoluteand relative cancer risks for MSH6 mutation carriers.
  18. Correlation Between Clinical Pathological Parameters and Family History To Detect Mutations in MLH1, MSH2 and MSH6, Spain 2011 Conclusion:  The most important clinical feature to predict the presence of a mutation in the genesMLH1, MSH2 and/or MSH6 in families with HNPCC is the diagnosis of endometrial cancer (univariate analysis).
  19. Study indicates  Amsterdam criteria and each of the Bethesda criteria were inadequate for identifying MSH6 mutation-carrying kindreds. MSH6 mutations may be more common than currently assumed, and the penetrance/expression of MSH6 mutations, as derived from families meeting current clinical criteria, may be misleading. To increase detection rate of MMR mutation carriers, all cancers in the Lynch syndrome tumour spectrum should be subjected to immunohistochemical analysis and/or analysis for microsatellite instability.
  20. Researchers from Australia find a new method to detect new mutations in mismatch repair genes.
  21. Study from University of Rouen, France, indicates the median age of CRC onset was 43 years, a significant difference of CRC penetrance between males and females and between MSH2 and MLH1 mutation verus MSH6 mutation carriers. Results are in agreement with published studies, which estimate cumulative CRC risk at 70 years is higher in males than females and is lower in MSH6 mutation carriers, compared to those with MSH2 and MLH1.

PSYCHO-SOCIAL

 

  1. The Importance of Older Family Members In Providing Social Resources And Promoting Cancer Screenings in Families With a Hereditary Cancer Syndrome: Study by the University of Memphis, 2011.  Utilizing the older members of families to facilitate screenings and provide emotional well being of family members may be beneficial.  Study indicated younger respondents were more willing to recruit older family members as providers of social resources.
  2. From Sweden, a very good Psycho-Social study Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations  9/2012
  3. Impact Of Genetic Testing on Risk-Reducing Behavior in Women AT Risk for Hereditary Gynecologic Cancer Syndromes from Beth Israel Deaconess Medical Center, Boston, Massachusetts and Dana Farber Cancer Institute, Boston, Massachusetts.  Conclusion: In the first year after genetic testing, women who tested positive for HBOC or Lynch syndrome increased uptake of prophylactic surgery or screening to reduce their risk of gynecologic cancers. Women with true-negative results do not pursue these unnecessary interventions, whereas those with indeterminate or variant test results do not significantly change their risk-reducing behaviors.
  4. Attitudes Toward Childbearing And Prenatal Testing In Individuals Undergoing Genetic Counseling for Lynch Syndrome:  Study of 161 individuals, mean age 46 years, 71 percent women and 53% having sustained cancer, by Dana Farber researchers revealed 80% worried about their childrens risk of cancer but only 9% reported their decision to have children was affected by their family history of cancer.
  5. From Genetics in Medicine:  September 2008, Volume 20 - Issue 9 - pp 691-698 Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinician Lostuter, Katrina J. MS: Sand, Sharon BA; Blazer, Kathleen R. MS; MacDonald Deborarh J. PhD; Banks, Kimberly C. MS; Lee, Carola A. JD; Schwerin, Barbara U. Esq. Juarez, Margaret MD; Uman, Gwen C. PhD, WEitzel, Jeffrey N. MD.   Conclusion:  Concerns about genetic discriminationand knowledge deficits may be barriers to cancer genetics referrals.  Aclinicial education may help promote access to cancer screening and prevention. (Note:  96% viewed genetic testing as beneficial. 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination.  Concern about genetic discrimination was selectged as reason for NONREFERRAL BY 11% of physicians.
  6. National Cancer Institute Page On Psycho-Social Studies Of Those With Lynch Syndrome

ETHNIC AND CULTURE STUDIES

 

  1. Gynecologic cancer screening and communication with health care providers in women with Lynch Syndrome  2013 Jul 31. doi: 10.1111/cge.12246 

  2. Fam Cancer  Lynch Syndrome in High Risk Ashkenazi Jews In Israel  8/30/2013

  3. A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia  10/2012

  4. Evaluation of MLH1 1219V Polymorphism in Unrela ted South American Individuals Suspected of Having Lynch Syndrome.  10/2012  

  5. 6/2012  Study concludes MSI-High appears lower in Korean patients with colorectal cancers
  6. Detection of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in Non-Caucasian Patients - January 2012, MD Anderson Study of a diverse group of patients over a long period of time, breaking results down to specific cancers.
  7. Characteristics of Lynch Syndrome In Thirteen Hispanic Families: Ricker et.al; Hereditary Cancer in Clinical Practice 2010 8 (Suppl 1) P. 19
  8. Clinicopathologic and Genetic Features of Chinese  Hereditary Nonpolyposis Colon Cancer, Shanghai Institute for Biological Science (Abstract)
  9. Prevalence and Characteristics of HNPCC In Immigrant Chinese Cancer Patients (Abstract)  Conclusion:  MSH-6 has first presentation in patients over age of 50 in Chinese patients.  Warrants further study.
  10. 8/2012 Germline Analysis of hPMS2 gene in Chinese Families with HNPCC
  11. Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population  2/2012
  12. Germline MLH1 and MSH2 Mutations In Italian Pancreatic Cancer Patients With Suspected Lynch Syndrome:  Conclusion:  Only a small subset of Italian pancreatic cancer patients carry pathogenic MMR mutations.
  13. Frequency of Extracolonic Tumors in Brazilian Families With Lynch Syndrome: analysis of an hereditary colorectal cancer institutional registry    Breast cancer was the most frequent extracolonic cancer amongst women with endometrial  cancer and uterine cervix cancer following.  For men, prostate and Gastric Cancers were the most frequent extracolonic cancers.
  14. 12/12/2010 A new mutation of Lynch syndrome within Exxon 13 has been found within a Spanish family.
  15. High Risk of Colorectal and Endometrial Cancer in Ashkenazai Families with MSH2 A636P Founder Mutation June 2011 University of Michigan, Ann Arbor, MI  Conclusion:  Lifetime risk of CRC and EC are high by age 70, 61.62% for men and 61.08% for women with cummulative EC risk of 55.6% for women and an average mean age of diagnosis at 53 years of age.
  16. Women in Tunisia - Tunisian Study  MMR repair genes play a significant role in CRC susceptability, more research needed on cause, especially for left hand tumours.
  17. Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome In Korean Patients With Endometrial Cancer
  18. 7/11/2012 A Unique Mutation in MSH2, Exon 8 Accounts For A Major Portion Of Those With Lynch Syndrome in Sardinia
  19. 4/28/2011  Lynch Syndrome In A Predominantly Afrocentric Population, a clinipathological and genetic study...  Mount Sinai Hospital, Toronto with University of the West Indies, Mora Jamaica studied 25 patients under 40 with CRC, concluding thirteen percent 13% had mutations with prevalence similar to that reported by the white population.
  20. Screening of the DNA Mismatch Repair Genes of MLH1, MSH2 and MSH6 In A Greek Cohort of Lynch Syndrome Suspected Families  BMC Cancer, October 11, 2010
  21. Iranian study of colorectal cancer - Family History of Colorectal Cancer In Iran, Mehr Hospital, Tehran 2005.  The family history of cancer is traced in 449 CRC patients of which 112 were 45 yrs or younger and 337 were older than 45 yrs at time of diagnosis. The patients were admitted in two hospitals in Tehran, during a 4-year period.
    Results: Clinical diagnosis of HNPCC was established in 21 (4.7%) probands. Family history of CRC was more frequently reported by early-onset than by late-onset patients (29.5% vs. 12.8%, p < 0.001).
  22. Estonian study of colorectal cancer of 180 persons, by use of pathological testing, determines MSI-H and BRAF mutation were observed in 30 and 28 out of all cases, respectively. Several polymorphisms in MLH1 (13); MSH2 (11); MSH6 (10) and PMS2 (15) genes, and a few previously not described variants of unknown significance were found.
  23. 8/13/2012  Within a study of 124 unrelated South American individuals, The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. Conclusion: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
  24. A First Incidence Study of Lynch Syndrome in Italy (6/2012)  Of the 430 patients enrolled, 17 (4%) were high risk [4 hereditary non-polyposis colorectal cancer (HNPCC), 12 suspected HNPCC and 1 MUTYH-associated adenomatous polyposis coli (MAP)], 53 moderate risk and 360 mild risk cases. MSI test was performed on 393 tumours, 46 (12%) of them showed MSI-H. In these patients, one MLH1 pathogenetic mutations and two MSH2 pathogenetic mutations were found. Thirty-two (70%) MSI-H cases demonstrated MLH1 methylation and/or BRAF mutation: None showed MLH1/MSH2 mutation. Two biallelic germline MUTYH mutations detected, one with clinical features of MAP. Strong family history of CRC was present in 4% of the enrolled cases; incidence of MLH1/MSH2 or MUTHY mutations was 1.3% and of MSI-H phenotype was 12%. MLH1 methylation and BRAF mutation can exclude 70% of MSI-H cases from gene sequencing.
  25. The Canadian Journal of surgery reports a study conducted of black individuals in Jamaica has indicated thirteen percent of the population had mutations in keeping with Lynch syndrome. 10/2012
  26. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families but also occurs de novo in different populations.  11/2/2011

    26.  Breast cancer in Irish Families  Breast cancer occurred at an early age and was more common than prostate cancer in Irish Lynch Syndrome pedigrees. All reported breast cancer cases were in kindreds with MSH2 or MSH6 mutations. Enhanced breast cancer screening may be warranted in certain Lynch Syndrome kindreds.

  27.  2005  A study of individuals in Greecereveals The majority of mutations identified in this cohort are found in hMSH2 (77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.

  28. 1/2013 Cancer Spectrum in Families from Ireland indicates cancers identified include: CRC, endometrial , gastric, ovarian, renal, breast, prostate, urothelial, NHL, CML, lung, vocal cord, sebaceous carcinoma and cervix. Median age of diagnosis was 44.

  29. 1/2013 Ireland study results on LS, of age affected children and affected parents.  

MSI - IHC TUMOR TESTING

Identification of Lynch Syndrome Among Patients With Colorectal Cancer  10/17/2012   In an enormous research study involving over 10,000 individuals with Colorectal Cancers, Lynch researchers discovered universal testing of tumors among CRC Probands had a greater sensitivity compared with alternative strategies, including use of the Bethesda criteria.  

 

Current Hypotheses on how Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients  Kristen M. Drescher, Poonam Sharma and Henry T. Lynch, Creighton University

 

Abstract: High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

 

From the Office of Public Health Genomics: The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Mvundura M, Grosse SD, Hampel H, Palomaki GE. Genet Med. 2010 Feb;12(2):93-104.  Results:  Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of $45,000 per life-year saved compared with no testing and $75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost $25,000 per life-year saved relative to no testing and $40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios $700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness.

Conclusion: Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.

 

The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer Mount Sanai Hospital and Samuel Luenfeld Research, University of Toronto

 

EGAPP Recommendations April 2011

 

Preoperative Diagnosis of Lynch Syndrome With DNA Mismatch Repair Immunohistochemistry On A Diagnostic Biopsy - Dec. 2011  33 samples of biopsies taken.  Study indicates mismatch repair status is accurate on biopsies allowing preoperative diagnoses of Lynch syndrome before definitive surgery, allowing the patient and the physician more options to determine appropriate protocol.

 

Psychological Distress In Newly Diagnosed Colorectal Cancer Patients Following Microsatellite Instability Testing for Lynch Syndrome On the Pathologist's Initiative Radboud University Nijmegen Medical Center; Nijmegen, The Netherlands  2/7/2012

 

Prevalence of Mismatch Repair Deficient Crypt Foci In Lynch Syndrome: A Pathological Study

 

Routine Universal Screening for Lynch Syndrome in Colorectal Cancer Patients In The Community Setting  J Clin Oncol 30, 2012 (suppl; abstr 1512)


MISCELLANEOUS

Pubmed Links to almost 4,000 studies results and journal articles in respect to Lynch syndrome.

ING Life Insurance speaks of hereditary conditions and Lynch syndrome and insurability

Coding and Billing for Lynch Syndrome

 

Modified 5/18/2014

 

 

 

 

 

 

 

 

 

 

Photo - Courtesy of Drew Herron

 

REGIONAL REPRESENTATIVES AND THE LSI BUDDY PROGRAM

 

Lynch Syndrome International is an all volunteer organization with NO person, within the organization, personally compensated for their good efforts.

The Directors of LSI are all Survivors, Previvors, Medical Professionals and those who care for us and who have a special knowledge and experience with Lynch syndrome.

The heart of LSI is within our global regions and within the regional representatives and dozens of LSI volunteers as they operate the grass roots public awareness programs, learn of the resources available in the area for those with Lynch syndrome and provide public awareness to members of the community and local support to those with Lynch syndrome.  Our representatives, when available, do travel on a regional basis to conferences, exhibitions and public events and do speak locally on behalf of public awareness for Lynch syndrome.

Lynch Syndrome International volunteers  come from all walks of life, come in all ages, all  colors and some speak various different languages. exactly the same as the diverse populations in our communities as Lynch syndrome is not discriminatory.  It doesn't care if you are black, brown, yellow, red or white, or male or female, or a specific religion or sexual preference.  It prefers the young but will strike at any age...therefore, we have developed a network of Moms, Dads, students, caretakers and everyday people with Lynch syndrome or who are familiar with Lynch syndrome to be available to be there during time of need.

Lynch Syndrome International offers "Buddy to Buddy" networking whereupon individuals at high risk for Lynch syndrome can meet and interact with others who are also at high risk.  Our regional representatives provide support for individuals who have Lynch syndrome through the "Buddy to Buddy" program.  To make certain you are immediately contacted by someone who shares your interests and your background, contact us via email at This email address is being protected from spambots. You need JavaScript enabled to view it.  or by phone at 707-689-5089. 

Only those who have had a personal experience with Lynch syndrome can truly understand the feelings individuals go through with the initial diagnosis of Lynch syndrome and/or the cancers of Lynch syndrome.  Our mission is to be here for one another.

 

 

Photo - Courtesy Stephen Thomas

INTERNATIONAL RESOURCES

 

 

Many countries offer governmental furnished health care or governmental subsidized health care.

In the Americas, countries offering universal health care include:  Argentina (combination of employer, labor union, governmental and private plans) Brazil, Canada, Chile, Costa Rica, Cuba, Grenland, Mexico, Panama, Peru, Uruguay, Trinidad, Tobaga and Venezuala.

In Asia and the Middle East, countries offering universal health insurance include:  Bhutan, Hong Kong (with the second highest survival rate in the world); China, Macau, North Korea, Mongolia, Khazakstan, Tajekistan, Turkmenistan, Azerbijan, Pakistan, Jordan, Oman.  India's health care is operated by federal governments.  Israel furnishes basic health care.

Almost all of Europe has basic or general health care.  Some countries offer health care for sickness and basic care and individuals have the opportunity to supplement their health care with private programs.  The Netherlands has a dual system whereupon all primary care is furnished by private corporation or individuals and long termed care is furnished by the government through taxation.  Taxation does pay part of the health care premiums.

In Russia, health care is free of charge, whereas in Australia, government expends about sixty percent of the costs.  In Africa, Egypt, Morocco, Libya, Algeria, South Africa, Tunisia and Ghana offer universal health care to their populations.

Early diagnosis of cancers make Lynch syndrome cancers very treatable and making certain those at risk have access to the resources which can enhance the quality of life for them and for their families.

 

INFORMATION

Open Access to Free Journals and Studies:

Genome Biology

Genome Medicine

BMC Genomics

BMC Medical Genomics

BMC Genetics

BMC Medical Genetics

BMC Molecular Biology

Genetic Vaccines and Therapy

Genetics Selection Evolution

Investigative Genetics

Genome Integrity

Mobile DNA

BMC Informatics

Orphanet Journal of Rare Diseases

BMC Medicine

 

 

 

INTERNATIONAL ORGANIZATIONS

 

The Human Genome -Information, Education and Statistics on International Genetics

The Human Variome Project International, Ltd

International Society for Gastrointestinal Hereditary Tumours - InSight

National Center for Biotechnical Information -Information, Education and Statistics on International Genetics

Orphanet - Information on Rare Diseases

Orphanet - Lynch Syndrome Support Group Page

Orphanet International Trial Search

World Health Organization: Genetic Counseling

The American Society of Human Genetics

This email address is being protected from spambots. You need JavaScript enabled to view it.">American College of Human Genetics

American Board of Genetic Counseling

This email address is being protected from spambots. You need JavaScript enabled to view it.">American Board of Medical Genetics

National Coalition for Health Education In Genetics

This email address is being protected from spambots. You need JavaScript enabled to view it.">International Society of Nurses in Genetics

This email address is being protected from spambots. You need JavaScript enabled to view it.">Association of Genetics Technologists

This email address is being protected from spambots. You need JavaScript enabled to view it.">Genetic Society of America

Federal of American Societies for Experimental Biology

American Society of Gene Therapy

Ibero American Society of Human Genetics of North America

EuroGenTest, includes unites on genetic testing: quality management, information databases, public health, new technologies and education

European Society of Human Genetics (ESHG)

European Genetics Foundation (EGF)

European Cytogeneticist Association (ECA)

European Society of Gene Therapy (ESGT)

Clinical Molecular Genetics Society (CMGS)

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Association of Chinese Geneticists in America

Latin American Human Genetics Network [Red Latinoamericana de Genética Humana], (RELAGH)

Latin American Society of Genetics (ALAG)

International Federation of Human Genetics Societies (see Member Societies List)

Human Genome Organisation (HUGO)

Human Genetics Programme, World Health Organization (WHO)

Society for The Study of Inborn Errors of Metabolism (SSIEM)

International Consortium  For Oral Clefts Genetics (ICOCG)

International Genetic Epidemiology Society (IGES)

EuroGenTest, includes unites on genetic testing: quality management, information databases, public health, new technologies and education

Association for Molecular Pathology (see genetics subdivision)

The Genome Action Coalition (TGAC)

National Cancer Institute - Directory of Genetic Counseling Experts

World of Genetic Societies - Federation of Societies for Experimental Biology (FASEB)

Coalition for Genetic Fairness (CGF)

Genetic Resources on the Web (GROW)

Healthy Mothers, Healthy Babies (HMHB)

Public Health Genetics Society

National Coalition for Health Professional Education in Genetics (NCHPEG)

National Advisory Council for Human Genome Research (NACHGR)

Secretary's Advisory Committee on Genetic Testing (SACGT)

National and Regional Genetics Societies and Associations, Illinois State Academy of Science

Genetické spolecnosti ve svete, lists of genetic societies

Center For Disease Control, United States Government

National Institute of Health, United States Government

World Cancer Research Fund International

 

 

Argentina

Argentina Society of Medical Genetics [Sociedade Argentina de Genética Médica]

Sociedade Argentina de Genética

Arab States

Center for Arab Genomic Studies

Bahrain
State of Bahrain Ministry of Health

Brazil

Brazilian Clinical Genetics Society [Socidade Brasileira de Genética]

Brunei Darussalam
Ministry of Health, Brunei Darussalam

 

Chile

Sociedad de Genética de ChileChilean Genetics Society

La Sociedad de Genética de Chile (affiliated with Chilean Biology Society)

 

China

Cancer Institute, Second Affiliated Hospital, Zhejiang University, Hangzhou, PR China



Cook Islands
Government of the Cook Islands


 

Eastern Biotech Genetic Testing and Counseling MSH1 and MSH2

Estonia
Estonian Ministry of Social Affairs

Estonia Society of Medical Genetics
 


Fiji
Ministry of Health, Fiji

 

Finland

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Finnish Society of Medical Genetics

Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, P.O. Box 63, Helsinki, 00014, Finland

 

Holland


Dutch Ministry of Health, Welfare and Sport

Danish Society of Medical Genetics (Dansk Selskab for Medicinsk Genetik)

Dutch Association of Clinical Genetics (VKGN)

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Netherlands Society of Human Genetics

University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands

The Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, The Netherlands

St. Antonius Hospital, Koekoekslaan 1, Nieuwegein, The Netherlands

Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands

University Medical Centre Utrecht, Heidelberglaan 100, Utrecht, The Netherlands

Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands

Department of Gastroenterology and Hepatology Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Public Health, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Human and Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands

Department of Internal Medicine, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

The Netherlands Cancer Institute, Amsterdam

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam

Department of Clinical Genetics, Academic Medical Center, Amsterdam

Department of Gastroenterology, The Netherlands Cancer Institute, Amsterdam

 

India

Cancer Institute (WIA), Adyar, Chennai - 600020, India

 

Italy

Italian Society of Human Genetics 

(SIGU) (Societa Italiana di Genetica Umana)

 

Korea

Genetics Society of Korea (GSK)

Korean Society of Human Genetics

 

Latvia

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Latvian Medical Genetics Society

Hereditary Cancer Institute, Riga Stradiš University, Dzirciema Street 16, LV 1007, Riga, Latvia



Lebanon
Ministry of Public Health, Lebanon

Eastern Biotech Genetic Testing and Counseling MSH1  MSH2

Lithuania
Ministry of Health, Republic of Lithuania

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Lithuanian Society of Human Genetics

Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius LT-08661, Lithuania

Luxembourg
Ministre de la Sante, Luxembourg

New Zealand
New Zealand Ministry of Health

Papua New Guinea
Department of Health, Papua New Guinea


Qatar
Ministry of Public Health, Qatar

 

Romania

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Romanian Society of Human Genetics
 

Serbia

This email address is being protected from spambots. You need JavaScript enabled to view it." style="font-family: Arial; ">Serbian Society for Human Genetics

 

Singapore

National University Hospital, Singapore


Slovak Republic
Ministry of Health, Slovak Republic (This website is not available in English)

Slovenia
Ministry of Health, Republic of Slovenia

 

UAE

College of Health Sciences, Genetics, University of Sharjah, Sharjah, United Arab Emirates

 

Revised 9/13/2012

 

 

 

alt

 

 

 

U.S. NATIONAL SUPPORT AND RESOURCES

 

We are in the process of developing all the support and treatment resources available, throughout the world, for individuals at high risk for Lynch cancers. The biggest fear for individuals with Lynch syndrome is whether or not there will be accessibility to surveillance testing, as well as treatment in the event one were to contract a cancer.

Each and every state within the U.S. offers affordable health care for those persons who are rejected from health insurance companies for possessing a preexisting condition.  Administered by individual states and the Federal Government, this program is known as the Affordable Health Act.

As well, Our goal?  No more survivors and hundreds of thousands of previvors until a cure can be found. Together we will make a difference.

Any and all resources listed upon any page within this website are not an endorsement of Lynch Syndrome International nor a recommendation of specific organizations, company, corporation, manufacturer, health care provider, product, institutions or facilities by Lynch Syndrome International.  By listing resources under our "Support Page," Lynch Syndrome International is merely providing a road map for individuals to follow in their search for healthcare and cancer related services.

 

Medicaid is a federal healthcare program administered by individual states.  The states are authorized to cover colon cancer screening but has the autonomy to decide what kind of screening it will cover and under what circumstances.  A federal website (govbenefits.gov) can help you find and determine your eligibility for state-administered programs like Medicaid.

The CDC (Center for Disease Control) offers a program entitled "Screening For Life."  This program reimburses local public health agencies for cancer screening.  Be certain and ask your local health agency if they participate and if you qualify.

The National Financial Resources Guidebook for Patients by the Patient Advocate Foundation, provides a thorough comprehensive list of resources, state by state, for those in need of financial resources to obtain diagnostic testing, treatment and ongoing surveillance.

 

Information:

Oconolink:  University of Pennsylvania

National Cancer Institute

Learn More About Colorectal Cancer Through Med Link (In Many Different Languages)

National Library of Medicine (Medline)

Cancer Prevention and Control

National Institute of Health

National Human Genome Research Institute (NHGRI)

U.S. Department of Labor Employee Benefits, Employee Guide to Health Benefits Under Cobra

The Cancer Project Education and Guidance For Dietary Issues And Cancer Prevention

Oncofertility Consortium

 

Organizations Offering Assistance, Including Co-Pays and Financial Assistance

African Women's Cancer Association

American Cancer Society

American Indian Cancer Foundation

Black Women's Health Imperative

Brenda Mehling Cancer Fund - Assistance For Ages 18-40

Bridge of Blessings - Financial Assistance for Women With Ovarian Cancer

Bureau of Primary Health Care

CancerCare  Financial Assistance for Cancer Related Costs  Assistance with Co Payments for Chemotherapy and Medicines

Cancer CoPayment Assistance Foundation

Cancer Financial Assistance Coalition

Cancer Service Directory through the National Cancer Institute

Cancer Survivors Fund  For young adults, assistance for scholarships and prosthetics

Cancer Treatment Center Search through the American Cancer Society

American Childhood Cancer Association

Cheap Colonoscopies.com  ColonoscopyAssist ($950 colonoscopies, nationwide)

Chronic Disease Fund (Good Days)

Clinical Center (NIH) Guide to Governmental Cancer Trials

Colon Cancer Alliance

Co-Pay Relief

Cure Search

Department of Veterans Affairs This email address is being protected from spambots. You need JavaScript enabled to view it.

Fertile Hope (Livestrong Fertility Resources)  Conduit to the Sharing Hope program which offers financial resources for reproductivity

Free Clinic Nationwide Search

Financial Help For People With Cancer

Find a Gastroenterologist (AGA Referrals)

Find a Gynecologic Oncologist

GARD Genetic and Rare Diseases Information Center

Genetic Testing Laboratories through Genetests

Healthwell Foundation

Hill-Burton Funded Healthcare Certain hospitals receive federal funding to provide services to individuals who are low income and do not have the means to pay for their own health care

Johnson and Johnson Patient Assistance Foundation

American Kidney Fund

Low Cost HRSA Health Care (Locations Throughout the US)

Insure Kids Now Program

Lance Armstrong Cancer Financial Assistance

Liddy Shriver Sarcoma Initiative  Support and Financial Help

Low Cost Colonoscopies

Medicaid

Medicare Colorectal Cancer Screening Program

Myriad Genetics Financial Program

http://www.mylifeline.org/ Free Websites for Cancer Survivors, Caretakers and Families

National Brain Tumor Society

National Coalition for Cancer Survivorship

National Collegiate Foundation - Provides Financial Assistance to Young Survivors Attending College National Council on Aging

NTAF  (Fundraising Assistance and Support for Transplant and Catastrophic Injury) 800-642-8399

National Financial Resources Guidebook for Patients

National Organization for Rare Disorders - Assistance Program

Nativve American Cancer Research  - Providers Financial Resources And Navigates Native Americans Through Resources

NCI Designated Cancer Centers

Needy Meds.org

Netwish Provides general financial help

NIH Clinical Studies Assistance

NORDS Patience Assistance Programs

Office Of Minority Health

Office of Rare Diseases

Pallative Care Program Search

Partnership for Prescription Assistance

Patient Access Network Foundation

Patient Advocate Foundation

Patient Services Incorporated  

Resolve (Assistance with Fertility Treatment)

RX Access Card

State and Local Health Departments

Sam Fund (For Young Adults)

States That Require Health Plans To Pay For Clinical Trials

Team Cantinuum   Patient Grants and Loans

The C.H.A.I.N Fund Inc.  Co-pays, Subsistence, Assistance While Fighting Cancer

Tricare Service Directory (for military members)

Veterans Administration Care Locations

Veterans Administration Cancer Program

2-1-1 Services

Prevent Cancer Foundation - Funds Research on prevention, educates on prevention, resources

 

Services For Underserved Persons

 

Avoncare provides financial medical assistance to medically underserved women.

Native American Cancer Research

PThis email address is being protected from spambots. You need JavaScript enabled to view it. - Hispanic Latino Outreach Program

Viva Bien Aprenda Como Spanish Website

National Institutes of Health Spanish Hotline  301-592-8573

Teens Living With Cancer -Support in Spanish for Teens with cancer

PAF's Scholarships for Survivors Program (for young adults)

This email address is being protected from spambots. You need JavaScript enabled to view it. (For young adults with cancer)  Websiite

Luzca Bien...Sientase Mejor (Look Good...Feel Better)  Spanish

My Oncofertility.org (Spanish)

Look Good...Feel Better for Teens  800-395-LOOK

Camp Kesem for kids and teens whose parents have cancer, California

Cancer and Careers (Spanish and English) career coaching, education, resources toward employees with cancer

 

For Young Adults Living With Cancer

I'm Too Young For This

massKickers

LIVESTRONG Young Adult Alliance

Single Jingles: A Testicular Cancer Foundation

Imerman Angels

First Descents

Joan's Fund

Break Cancer

Nanny Angel Network

MyLifeline.org

Sharsheret

Camp Mak-A-Dream  medically supervised, cost-free Montana experience, in an intimate community setting, for children, young adults and families affected by cancer.

MyOncolfertility.org

Make A Wish Foundation

 

How To Find A Gynecological Oncologist-Gynecologic Cancer Foundation

 

Tips for Finding Financial Assistance

 

 

The Desk.Info Roadmap Into Government Assistance

 

 

National Cancer Institute

The American Cancer Society is a godsend to those of us who have sustained Lynch cancers.  They are available to help with almost anything a survivor needs from assistance with head coverings, to the provision of medical services, to providing a warm compassionate person to listen to an anonymous, frightened voice and even transportation to medical appointments.  Do not hesitate to contact the American Cancer Society with your needs.

 

Financial Assistance for Medical and Genetic Testing:

 

The Federal Government subsidizes thousands of primary health clinics across the United States, known as HRSA Clinics.  These are listed with each individual state.  The thought is, if one does not have the financial means to obtain necessary screenings and treatment, these resources are always available.

The process would be to personally see a primary care provider at one of these facilities, advise him/her of the high risk to Lynch syndrome by providing evidence of a family history of Lynch cancers or evidence of a direct relationship with a family member with a diagnosed Lynch syndrome mutation and have him/her prescribe genetic counseling and testing for Lynch syndrome, or provide evidence of possessing a Lynch syndrome mutation and requesting the general practitioner refer you to a facility for ordered surveillance testing.

As well, the NCI finances hospital cancer programs throughout the United States.  These NCI hospitals and facilities are also listed beneath each state in which they are located, as they provide low cost/no cost health care for those who are in need and who are eligible.

 

Prescription Assistance

The National Cancer Institute

Adria Patient Assistance Plan 614-764-8000

Bristol-Meyers Indigent Patient Assistance Program  812-429-5000  Provides Cytoxan to patients with financial need

ICI Pharmaceutical Novaldex (tamoxifen) Patient Assistance Program  1-800-456-5678  Provides tamoxifen to patients with financial need.

Partnership for Prescription Assistance (PPA)  1-888-477-2669

Searle Pharmaceutical Company provides certain medicines to enrolled physicians.  Any physician may enrolled.  The physician is provided coupons to be redeemed for medicines by qualified patients 1-800-542-2526

Genentech - Patient Assistance Program provides financial help for cancer patients.

Needymeds - a website operated by a physician, a social worker and volunteers offering information regarding financial assistance for pharmaceuticals.

RXHope.com Complete List of Pharmaceutical Assistance by Name of Company

 

Air Transportation: (Free or Low Cost Airfare to Treatment for Those In Need)

 

New Directions for people with disabilities, inc. is a 501(c)(3) non-profit organization providing high quality local, national, and international travel vacations and holiday programs for people with mild to moderate developmental disabilities.

The National Patient Travel HELPLINE provides information about all forms of charitable, long-distance medical air transportation and provides referrals to all appropriate sources of help available in the national charitable medical air transportation network.

Patient AirLift Services arranges free air transportation based on need to individuals requiring medical care and for other humanitarian purposes.

TSA Cares is a helpline to assist travelers with disabilities and medical conditions. TSA recommends that passengers call 72 hours ahead of travel to for information about what to expect during screening.

 

Angel Med Flights, Scottsdale, Arizona (Worldwide)

Mission Air Transportation Network (Canada) 416-924-9333

Corporate Angel Network, Inc. White Plains NY  Corporate Aircraft free air transportation  914-328-1313

Airlifeline(USA) 800-446-1231  free air transportation for those in need of medical treatment who cannot afford commercial travel.

Mercy Medical Airlift

Air Charity Network

Air Care Alliance

Edward J. Safra Family Lodge at the NIH - Lodging while getting treatment at the NIH

Angel Flight at the NIH

Angel Flights For Veterans Services (For military families and veterans in need)

Air Ambulance Anywhere

Air Compassion America

National Patient Travel Hotline

National Patient Air Transport HELPLINE

 

 

Lodging During Treatment

 

Joe's House Lodging Guide for Cancer Patients

Homes That Help and Heal

Hope Lodge - Operated by the American Cancer Society

Hospitality Homes provides temporary housing in volunteer host homes and other donated accommodations for families and friends of patients seeking care at Boston-area medical centers.

The National Association of Hospital Hospitality Houses supports homes that help and heal to be more effective in their service to patients and families.

Ronald McDonald House Charities

 

Groceries, Cosmetic Care and Subsistence

  •  
  • Angel Food Ministries Provides food assistance in 32 states
  • Low Income Home Energy Assistance Program -If you have difficulties paying for your utilities, LIHEAP may be able to assist you with bill payments, an energy crisis, and weatherization and energy-related home repairs. To apply, call the National Energy Assistance Referral (NEAR) project toll-free at the number provided to get the contact information for your local LIHEAP office. (Click on name for hyperlink contact)
  • Society of St. Vincent de Paul Provides various services to people in need, including food programs, emergency financial assistance, emergency transportation, rent/mortgage assistance, free pharmacy services, budget counseling, referral services, and more.  Link is to local councils and contact the local council for assistance.
  • Assistance with General Living Expenses - Enter Zip Code for Resources in your Local Area
  • Brenda Mehling Cancer Fund provides financial assistance for patients ages 18-40 who are going through cancer treatment. Grants are awarded to cover co-payments, rent/mortgage, transportation, car insurance, repairs, and groceries.
  • Angel Food Ministries Operates in 32 states providing food relief
  • Blue Note Fund by the Colon Cancer Alliance
  • Team Continium Provides Assistance with Utilies and Day to Day Expenses
  • Road To Recovery - ACS program providing transportation to and from treatment

 

Health Insurance Resources Including High Risk Insurance Through States

 

 

 

Legal Information and Referrals:

 

Support

 

 

 

 

 

Revised 7/11/2013

 

 

 

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