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Article

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal of medical genetics - 1 Sept 2010

Sjursen Wenche, Haukanes Bjørn Ivar, Grindedal Eli Marie, Aarset Harald, Stormorken Astrid, Engebretsen Lars F, Jonsrud Christoffer, Bjørnevoll Inga, Andresen Per Arne, Ariansen Sarah, Lavik Liss Anne S, Gilde Bodil, Bowitz-Lothe Inger Marie, Maehle Lovise, Møller Pål

Abstract excerpt

BACKGROUND: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases. OBJECTIVE: To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20587412
DOI: 10.1136/jmg.2010.077677
PMCID: PMC2976029

Genes

MSH6
PMS2
MLH1
MSH2

Provenance

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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