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Article

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Human genetics - 1 Feb 2003

Kariola Reetta, Otway Robyn, Lönnqvist Karin E, Raevaara Tiina E, Macrae Finlay, Vos Yvonne J, Kohonen-Corish Maija, Hofstra Robert M W, Nyström-Lahti Minna

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome. Germline mutations in five different mismatch repair (MMR) genes, MSH2, MSH6, MLH1, MLH3, and PMS2 are linked to HNPCC. Here, we describe two colon cancer families in which the index patients carry missense mutations in both MSH2 and MSH6. The MSH2 mutation, I145M, is the same in both families, whereas the MSH6 mutations...

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Source

Identifiers

PMID: 12522549
DOI: 10.1007/s00439-002-0866-4

Genes

MSH2
MSH6
MLH1
MLH3
PMS2

Variants

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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