Mutations in Lynch syndrome genes MSH6 and PMS2 may be associated with breast cancer
Full article: https://www.nature.com/articles/gim2017254
Some women with mutations in MSH6 and PMS2, two Lynch syndrome genes, may have a modest (2 to 3-fold) increased risk for breast cancer. (6/14/18 updated 09/25/19)
The National Comprehensive Cancer Network (NCCN) is a national panel of experts that create guidelines for cancer treatment. NCCN has recommendations for screening in people with a gene mutation associated with Lynch Syndrome:
Guidelines for women
- Consider risk-reducing removal of ovaries and uterus upon completion of childbearing
- Women should be educated on possible symptoms of ovarian or uterine cancer. They should report any unusual vaginal bleeding, pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, or increased urinary frequency or urgency to health care providers immediately
- Consider screening via endometrial biopsy every 1-2 years
- Manage breast cancer risk based on family history
Guidelines for men and women
- Colonoscopy at age 20-25 (or 2-5 years prior earliest colon cancer in the family) every 1-2 years
- There is data suggesting that aspirin can decrease the risk for colon cancer in Lynch Syndrome but the best dosing has not been established
- Consider gastric cancer screening by EGD every 3-5 years beginning at age 40 if there is a family history of gastric cancer and/or Asian ancestry. If gastric screening is performed, considered testing for and treating H. pylori.
- Consider annual urinalysis beginning age 30-35, especially for people from families with a family history of urothelial cancer and individuals with a MSH2 mutation.
- Consider annual physical and neurological exam starting at age 25-30.
Questions To Ask Your Health Care Provider
- Should I consider genetic counseling or genetic testing for Lynch syndrome mutations given my personal and family history?
- My family has a history of Lynch syndrome, should I consider genetic counseling and testing?
- As a Lynch syndrome mutation carrier, what breast cancer screening options should I consider? What are my risks for other cancers?
- As a Lynch syndrome mutation carrier, what preventive measures should I consider?
- Can you refer me to a genetics expert?
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.