Lynch syndrome, which has been previously referred to as hereditary non-polyposis colorectal cancer syndrome (HNPCC), increases gynecologic cancer risks namely endometrial, ovarian, and urothelial cancers in addition to colorectal and other associated cancers (gastric or small bowel cancers), glioblastoma, pancreatic or biliary tract cancer, and sebaceous adenocarcinoma.
Lynch syndrome should be considered in women with personal and/or family histories with features such as
NOTE: Because medical interventions can prevent severe morbidity and mortality, Lynch syndrome is on the ACMG list of ‘secondary’ findings. In summary, the ACMG document on reporting such findings makes the following recommendations
Lynch syndrome is inherited in an autosomal dominant fashion, however because of variable expressivity and reduced penetrance, the patient’s personal and family history must be carefully assessed. It is important to note earlier ages of onset and multiple cancers that may suggest Lynch syndrome or another hereditary cancer syndrome. It is critical that those at high risk be identified and referred for genetic counseling. Genetic counseling will allow for discussion of appropriate genetic testing, cancer screening and risk reduction options.
ACMG and NSGC Joint Practice Guidelines: Referral Indications for Cancer Predisposition Assessment
Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges
ACOG and SGO Joint Practice Bulletin 147: Lynch Syndrome (link through SGO.org)
GeneReviews: Lynch Syndrome (Synonyms: HNPCC, Hereditary Non-Polyposis Colon Cancer)
Lynch syndrome in the 21st century: clinical perspectives
Treatment of epithelial ovarian cancer | The BMJ
ACMG ACT Sheet: Colon Cancer (Asymptomatic)
NIH Medline Plus: Lynch syndrome
ACOG Committee Opinion No. 793: Hereditary Cancer Syndromes and Risk Assessment
NCCN: Genetic/Familial High-Risk Assessment: Colorectal
Please log in to ObGFirst to access the 2T US Atlas