It is absolutely imperative you research and document your family history of cancer, as well as keep it updated. This family history will be absolutely necessary to help your physicians to determine the cancers which you and your family may be at high risk and which regular screenings are appropriate to protect you and your family.
While considerable hype has been created the past few years about colorectal cancer and Lynch syndrome, it is very important to remember Lynch syndrome is not solely about colorectal cancer. While there is a high risk for colorectal cancer in families with mismatch repair gene defects, there are also high risks of other cancers. Ordinarily, today, when we find a late staged cancer in Lynch syndrome, it isn't a colorectal cancer, but of one of it's many extracolonic (outside the colon) cancers. So, be sure and ask family members about ALL cancers within the family (grandparents, great grandparents, aunts, uncles, great aunts, great uncles, parents, siblings and cousins0, and note them carefully, for discussion with your physician.
Pay special attention to surgeries family members may have sustained, including hysterectomies, abdominal surgeries, etc. Ask specific questions. They may not know what kind of surgery, but they may recall a word which is important, such as, "I don't know the cancer or where, but they had something called a "whipple." Its all about asking the right questions and a lot of them, sometimes, to get to the bottom of the history.
Most insurance companies and physicians follow something called NCCN Guidelines and the guidelines of their own particular associations. These guidelines are extremely general as they are determined by "scientific evidence." Lynch syndrome is so understudied and so much is not known, that there is very little "scientific evidence," and will not be any until better tests and markers are found and more research is conducted. That said, the physician has to act prudently and determine the appropriate screenings based upon family history.
Therefore, the following guidelines are very minimal. If any medical professional determines your guidelines to be solely those addressed by NCCN guidelines, then it is time to find a new physician or medical doctor. They are intentionally written vaguely to allow for physician consideration.
Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first for those with MLH1 and hMSH2 mutations. For MSH6 and PMS2 patients, NCCN guidelines recommend colonoscopy testing beginning at the age of 25-30 or 2-5 years prior to the youngest age of presentation of colorection cancer in the family if diagnosed under the age of 30, and repeat every one to two years.
NCCN Guidelines reflects: There are data to suggest that aspirin may decrease the risk of colon cancer in LS, however, at this time, the data are not sufficiently robust to make a recommendation for its standard use.
Patients must be aware that dysfunctional uterine bleeding warrants evaluation;
There is no clear evidence to support screening for endometrial cancer for LS. However annual endometrial sampling is an option.
Where there may be circumstances in which clinicians find screening helpful, data do not support routine ovarian screening for LS. Transvaginal ultrasound for ovarian and endometrial cancer has not shown to be sufficiently sensitive or specific as to support a positive recommendation, but may be considered at the clinician's discretion."
Serum CA-125 is an additional ovarian cancer test with caveats similar to transvaginal ultrasound.
Extra Colonic Cancers for MLH6 and PMS2: The risk of other LS cancers is reportedly low, however due to limited data no screening recommendation is possible at this time.
Extra Colonic Cancer Screenings for MLH1 and MSH2:
Gastric and Small Bowel Cancer: "There is no clear evidence to support screening for gastric, duodenal, and small bowel cancer for LS. Selected individuals or families of those of Asian descent may consider EGD with extended duodenoscopy (to distal duodenum or into the jejunum) every 3-5 years beginning at 30-35 years. (LSI NOTE: Discuss family history of these cancers with your physician)
Urothelial Cancer: Consider annual urinalysis starting at 25-30 years. (LSI Note: Discuss family history with your physician and if significate discuss a screening program for these cancers.)
Central Nervous System Cancer: Annual physical/neuological examination starting at 25-30 years, no additional screening recommendations have been made. (Discuss family history of neurological cancers with your physician)
Pancreatic Cancer: Despite data indicating an increased risk for pancreatic cancer, no effective screening techniques have been identified; therefore, no screening recommendation is possible at this time;
Breast Cancer: There have been suggestions there is an increased risk for breast cancer in LS patients, however due to limited data, no screening recommendation is possible at this time.
European studies have evidenced prostate cancers as an integral component of Lynch syndrome, though the experts believe there is need for more evidence. LSI suggestis discussion with your physician whether annual PSA screenings and prostate exams are a prudent choice for the screening of individuals with the Lynch syndrome.
LSI suggests you discuss the following with your physician:
Examination and Review: Family History Review, Discussion of LS - Annually and include an update on new cancers found within your family history.
Discussion of Dermatological Examination for those with a family history of sebaceous or the following cancers of Muir Torre if a family history exists, or a personal history of sebaceous or other tumors as noted below: Including Muir-Torre lesions characterized including, but not all inclusive of sebaceous adenomas, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)
Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy or total colectomy favored with preferences of patient actively elicited. Consider more extensive colectomy for patients with a strong family history of colon cancer or young age.
Any Other Screening As Deemed Appropriate By the Physician:
Breast Cancer (Currently Being Studied)
Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum. Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families. Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.
Illustration Courtesy of Michael McCullough
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 Genetic/Familial High Risk Colorectal 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.