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Article

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

Gastroenterology - 1 May 2005

Truninger Kaspar, Menigatti Mirco, Luz Judith, Russell Anna, Haider Ritva, Gebbers Jan-Olaf, Bannwart Fridolin, Yurtsever Hueseyin, Neuweiler Joerg, Riehle Hans-Martin, Cattaruzza Maria Sofia, Heinimann Karl, Schär Primo, Jiricny Josef, Marra Giancarlo

Abstract excerpt

BACKGROUND & AIMS: Germline mutations in the DNA mismatch repair (MMR) genes MSH2, MSH6, or MLH1 predispose to colorectal cancer (CRC) with an autosomal dominant inheritance pattern. The protein encoded by PMS2 is also essential for MMR; however, alterations in this gene have been documented only in extremely rare cases. We addressed this unexpected finding by analyzing a large series of CRCs. METHODS: Expression...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15887099
DOI: 10.1053/j.gastro.2005.01.056

Genes

PMS2
MLH1
MSH2
MSH6

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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