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Article

Somatic mismatch repair testing in evaluation of Lynch syndrome: The gap between preferred and current practices.

Journal of genetic counseling - 1 Oct 2020

Williams Danielle, Vilar Eduardo, Shakrukh Hashmi S, Choates Meagan, Noblin Sarah, Mork Maureen

Abstract excerpt

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome primarily defined by increased risk for colorectal and uterine cancers. Individuals with germline pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, and PMS2) are diagnosed with LS and recommended high-risk screening protocols to increase prevention and early detection of LS-related cancers. Tumor testing can help...

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Identifiers

PMID: 31896172
DOI: 10.1002/jgc4.1198

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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