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Article

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Human mutation - 1 Dec 2012

Rasmussen Lene Juel, Heinen Christopher D, Royer-Pokora Brigitte, Drost Mark, Tavtigian Sean, Hofstra Robert M W, de Wind Niels

Abstract excerpt

Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the most prevalent hereditary colorectal cancer syndrome. A significant proportion of variants identified in MMR and other common cancer susceptibility genes are missense or noncoding changes whose consequences for pathogenicity cannot be easily interpreted. Such variants are designated as "variants of uncertain...

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PMID: 22833534
DOI: 10.1002/humu.22168

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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