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Article

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Familial cancer - 1 Jun 2013

Sijmons Rolf H, Greenblatt Marc S, Genuardi Maurizio

Abstract excerpt

Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance (VUS). In contrast to clearly pathogenic mutations, VUS do not firmly diagnose Lynch syndrome at the molecular level...

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Identifiers

PMID: 23525798
DOI: 10.1007/s10689-013-9629-8

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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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