Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

doi:10.1038/ncomms14755

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Article

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature communications - 3 May 2017

Haraldsdottir Sigurdis, Rafnar Thorunn, Frankel Wendy L, Einarsdottir Sylvia, Sigurdsson Asgeir, Hampel Heather, Snaebjornsson Petur, Masson Gisli, Weng Daniel, Arngrimsson Reynir, Kehr Birte, Yilmaz Ahmet, Haraldsson Stefan, Sulem Patrick, Stefansson Tryggvi, Shields Peter G, Sigurdsson Fridbjorn, Bekaii-Saab Tanios, Moller Pall H, Steinarsdottir Margret, Alexiusdottir Kristin, Hitchins Megan, Pritchard Colin C, de la Chapelle Albert, Jonasson Jon G, Goldberg Richard M, Stefansson Kari

Abstract excerpt

Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed...

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Identifiers

PMID: 28466842
DOI: 10.1038/ncomms14755
PMCID: PMC5418568

Genes

MSH6
PMS2
MLH1

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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