Managing Lynch Syndrome

In this section we will discuss screening, surgery and cancer prevention strategies.

A diagnosis of Lynch syndrome requires vigilance in order to prevent and detect cancer at an early stage.  Because Lynch syndrome is associated with an increased risk of cancer, it’s important to carefully follow screening guidelines and take steps to modify lifestyle and prevent cancer.

Screening

If you’ve been diagnosed with Lynch syndrome, your physician and genetic counselor will likely recommend a specific screening program for you. Screening tests are tests that are designed to detect cancer prior to the presence of any symptoms. Screening for cancer helps ensure that cancer is detected in its earliest stages when it is most treatable.

The National Comprehensive Cancer Network (NCCN) provides a set of screening guidelines for individuals with Lynch syndrome. To review the 2015 NCCN Guidelines for Lynch Syndrome click here: NCCN Guidelines Version 2.2015 . [i] Depending on your unique situation, one or more of the following screening procedures may be recommended:

Colorectal Cancer: Individuals with Lynch syndrome are recommended to begin screening for colorectal cancer at a much younger age than the general population. NCCN  guidelines recommend that individuals with Lynch syndrome begin colonoscopy screening either:

  • Between the ages of 20-25
  • Two-five years prior to the age of onset of the earliest cancer in the family if it is diagnosed before age 25

Individuals with Lynch syndrome are advised to undergo colonoscopy screening every one to two years.

During a colonoscopy, a physician inserts a long, flexible tube that is attached to a camera through the rectum in order to examine the internal lining of the colon and rectum for polyps (precancerous growths) or other abnormalities. Removing these polyps can reduce the risk of colon cancer. Individuals with Lynch syndrome tend to develop polyps that are more difficult to detect, which may require the use of newer colonoscopy techniques, such as chromoendoscopy, which uses dye to color colon tissue and help detect flat polyps.

Sigmoidoscopy is not recommended for individuals with Lynch syndrome as it only examines a small portion of the colon and does not look at the other portions of the colon which are at risk for developing cancer as well.

Signs and symptoms of colon cancer

  • Bleeding from the rectum
  • Blood in the stool or toilet after a bowel movement
  • A change in the shape of the stool (i.e. thinning)
  • Cramping pain in the abdomen
  • Feeling the need to have a bowel movement when you don't actually have to

Uterine Cancer: Although women with Lynch syndrome are at an increased risk of developing uterine cancer, the NCCN guidelines state that because there is no clear evidence to support screening for uterine cancer in this population, annual endometrial biopsy is optional. During an endometrial biopsy, a physician removes a small piece of tissue from the uterus to examine it for changes that may indicate cancer. Some women with Lynch syndrome, particularly those with a family history of uterine cancer, choose to undergo an annual endometrial biopsy during their annual pelvic exam. Screening or not, abnormal uterine bleeding is always cause for further evaluation. Women with Lynch syndrome who experience bleeding (other than a menstrual period) should see a physician.

Signs and symptoms of endometrial (uterine) cancer

  • Vaginal bleeding (in a post-menopausal woman)
  • Abnormal bleeding (including bleeding in between periods, or heavier/longer lasting menstrual bleeding)
  • Abnormal vaginal discharge (may be foul smelling)
  • Pelvic or back pain
  • Pain on urination
  • Pain on sexual intercourse
  • Blood in the stool or urine

 

Ovarian Cancer: Because ovarian cancers begin deep in the pelvis, they often do not cause any symptoms until they are at an advanced stage. Ovarian cancer is difficult to detect through screening tests. In the general population, screening for ovarian cancer has not been shown to reduce the risk of death. However, because women with Lynch syndrome have an increased risk of developing ovarian cancer, some clinicians believe that screening is warranted in this population.

The NCCN has determined that screening may be considered at the clinician’s discretion. There are two types of screening tests that can be used for ovarian cancer and neither has been shown to be sufficiently sensitive or specific:

  • Transvaginal ultrasound: A transvaginal ultrasound is an imaging procedure during which a physician inserts a probe into the vagina to examine the reproductive organs and bladder.
  • CA-125: CA-125 is a protein produced by more than 90 percent of advanced epithelial ovarian cancer, which is the most common form of the disease. The serum CA-125 test is a blood test that looks for high levels of CA-125, considered a biomarker of ovarian cancer. The test is imperfect and is not considered a reliable method for detecting ovarian cancer

Some physicians choose to use both transvaginal ultrasound and the serum CA-125 test together in order to screen for ovarian cancer in women with Lynch syndrome.

Signs and symptoms of ovarian cancer

The symptoms that are more likely seen in women with ovarian cancer than healthy women include:

  • Bloating
  • Pelvic or abdominal pain
  • Difficulty eating or feeling full quickly
  • Urinary symptoms (urgency or frequency)

Transvaginal Ultrasound

Other Cancers: Screening recommendations for the less common Lynch-associated cancers vary based on family history.

  • Urinary Tract: If your family has a history of cancers associated with the urinary tract, your doctor may recommend periodic screening for these cancers. Sometimes an annual urine analysis is recommended; however, there is no proven benefit to this screening test. The NCCN suggests considering annual urinalysis beginning at age 25-30.
  • Gastrointestinal Cancer: According to the NCCN guidelines, there is no clear evidence to support screening for gastric or small bowel cancer in individuals with Lynch syndrome. If your family has a history of stomach cancer or cancer of the small intestine, your doctor may recommend annual endoscopy screening for these cancers beginning at age 30-35 recurring at 2-3 year intervals.
  • Skin Cancer: Lynch syndrome is associated with an increase risk of sebaceous skin cancer (which affects the sweat glands). It’s important to note any skin changes and report them to your doctor.

 

Preventive Surgeries

Surgeries that are performed to remove at-risk organs prior to the development of cancer are called risk-reducing (or prophylactic) surgeries. Some people opt to undergo risk-reducing surgery in order to prevent cancer. Some surgical options for preventing cancer include:

  • Hysterectomy: A hysterectomy refers to surgical removal of the uterus. Removing the uterus eliminates the possibility of developing uterine cancer in the future; however, it also eliminates the possibility of pregnancy. Many women with Lynch syndrome opt to undergo hysterectomy once they are done having children and are approaching menopause.
  • Oophorectomy: An oophorectomy is a surgical procedure to remove the ovaries, which reduces the risk of ovarian cancer. Once done having children, many women with Lynch syndrome choose to undergo hysterectomy and oophorectomy (removal of the uterus, ovaries, and fallopian tubes) in order to reduce their risk of cancer.

 

Colectomy: A colectomy is a surgery to remove the colon. This is a drastic measure that is generally only considered when someone is unable to undergo regular screening colonoscopy, as there is little evidence that a colectomy has any advantage over frequent cancer screening with colonoscopy.


Prevention Strategies

The best way to “treat” cancer is to prevent it from occurring in the first place. Because Lynch syndrome increases the risk of certain types of cancer, preventive strategies are of the utmost importance.

While you may not be able to completely eliminate the risk of developing cancer, there are steps that you can take to reduce the risk.

Aspirin: Some research indicates that daily aspirin may be a viable preventive strategy for individuals with Lynch syndrome. The results of the CAPP2 trial (Cancer/Adenoma Prevention Program) indicate that a minimum of two years of 600mg of daily aspirin can reduce the risk of colorectal and other cancers in Lynch syndrome by about 60 percent.[ii] The protective effects of the aspirin were not evident until five years after the beginning of aspirin therapy. To read more about this study click on The CAPP3 Study link.

Researchers continue to evaluate the effects of aspirin in reducing cancer risk. There are some side effects associated with regular aspirin use, including gastrointestinal ulcers and bleeding. There is also a small risk of developing cerebral hemorrhage (uncontrolled bleeding in the brain). If you are interested in using aspirin to reduce your risk of developing cancer, discuss the risks and benefits of daily aspirin with your physician.

Oral Contraceptives: The Cancer and Steroid Hormone Study (CASH) demonstrated that use of oral contraceptives can reduce the risk of endometrial cancer by 50%. We recommend that you talk to your gynecologist about

Lifestyle modifications: While diet and exercise are not a panacea, they do contribute to overall health. Several studies have indicated that a healthy diet and exercise may reduce the risk of developing cancer. Eating a diet rich in fruits, vegetables, and whole grains provides a number of health benefits, as does undergoing regular physical activity. 

Resources

1.  Nutrition Guidelines: American Cancer Society Guidelines on Diet and Physical Activity for Cancer Prevention http://onlinelibrary.wiley.com/store/10.3322/caac.20140/asset/20140_ftp.pdf?v=1&t=ht0gui89&s=aee53fc604c82e82a228d187ee6113116a6a0cf6

2. VideoEating for Life: Nutrition Strategies to optimize health after cancer treatment by Greta Macaire, RD.

http://vimeo.com/70349649

3. Kintalk Podcast"Nutrition for Cancer Prevention and Hereditary Cancer"  

Listen to UCSF expert nutritionist, Greta Macaire, RD,  talk about the importance of nutrition for cancer prevention.

 

Reproductive Options

For patients of reproductive age, advise about options for preimplantation genetic diagnosis (PGD) assisted reproduction. Discussion should include known risks, limitations, and benefits of these technologies. To learn more about PGD please visit  American Pregnancy Association here: http://americanpregnancy.org/infertility/preimplantationgeneticdiagnosis.html 

For Lynch syndrome carriers, risk of a rare (recessive) condition called Constitutional Mismatch Repair Deficiency (CMMRD) (aka Biallelic Mismatch Repair Deficiency or Homozygous Mismatch Repair Mutations) in offspring. If both partners carry a mutation in the SAME Mismatch Repair Gene this should be discussed with a genetic counselor, doctor or reproduction team. To lean more about CMMRD please visit Kintalk's page dedicated to CMMRD: http://kintalk.org/whats-lynch-syndrome/constitutional-mismatch-repair-deficiency/

 

1. Kintalk Podcast"Reproductive Technology and Preimplantation Genetic Diagnosis (PGD)"

Listen to UCSF fertility expert, Audra Katz, RN, on Lynch syndrome and Fertility Presevation.

 

 


[ii] Burn J, Gerdes AM, Macrae F, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. The Lancet. 2011; 378: 2081-2087.