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Article

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

The American journal of gastroenterology - 1 Nov 2010

Durno Carol A, Holter Spring, Sherman Philip M, Gallinger Steven

Abstract excerpt

OBJECTIVES: A novel cancer syndrome associated with biallelic mismatch repair (MMR) mutations has been described recently. Patients presenting with childhood-onset gastrointestinal (GI) cancers may carry biallelic MMR mutations and have a distinct phenotype from classic Lynch syndrome. The aim of this study was to characterize patients with GI small bowel and/or colorectal cancers (CRCs) who have germline...

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Source

Identifiers

PMID: 20531397
DOI: 10.1038/ajg.2010.215

Genes

MLH1
MSH2
MSH6
PMS2

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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