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Article

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

Human mutation - 1 Mar 2008

Barnetson Rebecca A, Cartwright Nicola, van Vliet Annelot, Haq Naila, Drew Kate, Farrington Susan, Williams Nicola, Warner Jon, Campbell Harry, Porteous Mary E, Dunlop Malcolm G

Abstract excerpt

Identification of germline mutations in DNA mismatch repair genes in colorectal cancer probands without an extensive family history can be problematic when ascribing relevance to cancer causation. We undertook a structured assessment of the disease-causing potential of sequence variants identified in a prospective, population-based study of 932 colorectal cancer patients, diagnosed at <55 years of age. Patient...

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Share to Adaptor Proteins, Signal Transducing
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Neoplasm

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Source

Identifiers

PMID: 18033691
DOI: 10.1002/humu.20635

Genes

MLH1
MSH2
MSH6

Variants

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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