Intermediate
Technical
IVT
Lynch syndrome
Hereditary cancer syndrome causing predisposition to colorectal and other gastrointestinal malignancies due to mismatch repair gene mutations.
Full Definition
Lynch syndrome is an autosomal dominant hereditary cancer syndrome characterized by mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2). Patients have significantly increased risk of developing colorectal cancer at younger ages, as well as endometrial, ovarian, gastric, and other gastrointestinal cancers. Editorial note: Often requires genetic counseling documentation and specific screening protocols in clinical documentation.
Usage
Usage note: Capitalize both words; avoid using HNPCC in patient-facing materials as it's considered outdated terminology.
In Context
- "The patient's family history of early-onset colorectal cancer prompted Lynch syndrome screening." — Genetic counseling report
- "Immunohistochemistry revealed loss of MLH1 expression, consistent with Lynch syndrome." — Pathology report
Also known as
hereditary nonpolyposis colorectal cancer
HNPCC
Don't confuse with
familial adenomatous polyposis
Li-Fraumeni syndrome