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Article

Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients.

Diseases of the colon and rectum - 1 Sept 2005

Shin Brian Y, Chen Huiping, Rozek Laura S, Paxton Leslie, Peel David J, Anton-Culver Hoda, Rennert Gad, Mutch David G, Goodfellow Paul J, Gruber Stephen B, Lipkin Steve M

Abstract excerpt

PURPOSE: Hereditary nonpolyposis colon cancer is caused by mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2. Classic MLH1 mutations cause an approximately 20-fold increase in colorectal cancer susceptibility. Recently, we identified a hypomorphic allele, MLH1 D132H , which impairs, but does not completely eliminate the function of MLH1 in tumor suppression. MLH1 D132H confers an approximately...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15991064
DOI: 10.1007/s10350-005-0123-8

Genes

MLH1
MSH2

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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