Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.

doi:10.1158/1055-9965.EPI-08-0512

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Article

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Nov 2008

Poynter Jenny N, Siegmund Kimberly D, Weisenberger Daniel J, Long Tiffany I, Thibodeau Stephen N, Lindor Noralane, Young Joanne, Jenkins Mark A, Hopper John L, Baron John A, Buchanan Dan, Casey Graham, Levine A Joan, Le Marchand Loïc, Gallinger Steven, Bapat Bharati, Potter John D, Newcomb Polly A, Haile Robert W, Laird Peter W

Abstract excerpt

Microsatellite instability (MSI) occurs in 10% to 20% of colorectal cancers (CRC) and has been attributed to both MLH1 promoter hypermethylation and germline mutation in the mismatch repair (MMR) genes. We present results from a large population- and clinic-based study of MLH1 methylation, immunohistochemistry, and MMR germline mutations that enabled us to (a) estimate the prevalence of MMR germline mutations and...

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Identifiers

PMID: 18990764
DOI: 10.1158/1055-9965.EPI-08-0512
PMCID: PMC2628332

Genes

MLH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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