LSI Library




Offering a host of resources on Lynch syndrome.





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




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)  







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





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






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.



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 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




UT Southwest article regarding important information on biallelic mutations

Canadian study describes a novel biallelic condition  10/2012




  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





  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.





  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
  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.



  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)




  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. 




  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




  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.




  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




  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


  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.



  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



  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; 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.  


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)


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