Lynch syndrome

Also known as: Hereditary nonpolyposis colorectal cancer

Hereditary mismatch repair deficiency with colorectal, endometrial and other cancers.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Polyposis syndromes
Sex & age distribution: Male: affected, higher colorectal cancer risk; Female: affected, with endometrial cancer risk; Children: rare, cancers from early adulthood
Gene(s) involved: EPCAM, MLH1, MSH2, MSH6, PMS2

Etiology & mechanism

Germline mismatch repair gene mutation causing microsatellite instability.

Gene(s) involved (5)

EPCAMMLH1MSH2MSH6PMS2

Symptoms & signs (6)

colorectal cancerendometrial cancergastric cancerovarian cancersebaceous tumorsurothelial cancer

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.