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Article

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Cancer research - 1 Sept 2009

Mueller James, Gazzoli Isabella, Bandipalliam Prathap, Garber Judy E, Syngal Sapna, Kolodner Richard D

Abstract excerpt

An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be Lynch syndrome cases for MSH2, MLH1, MSH6, and PMS2 gene defects. All cases were screened for mutations in MSH2, MLH1, and MSH6, and all cases where tumors were available were screened for microsatellite instability (MSI) and expression of...

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Topics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mass Screening

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Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 19690142
DOI: 10.1158/0008-5472.CAN-09-0358
PMCID: PMC2761236

Genes

MLH1
MSH2
MSH6
PMS2

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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