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Gastroenterology · Gastroenterology / Polyposis syndromes

Lynch syndrome

also: Hereditary nonpolyposis colorectal cancer

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

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
Alternative names & eponyms
Hereditary nonpolyposis colorectal cancer

Etiology & mechanism

Germline mismatch repair gene mutation causing microsatellite instability.

Gene(s) involved (5)

Symptoms & signs (6)

In plain terms, someone with Lynch syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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