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Article

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

European journal of human genetics : EJHG - 1 Jan 2000

Genuardi M, Carrara S, Anti M, Ponz de Leòn M, Viel A

Abstract excerpt

To determine the role played by MLH1 and MSH2 missense variants in cancer susceptibility, we have investigated the following genetic and biological characteristics associated with six MLH1 and four MSH2 missense changes identified in Italian hereditary nonpolyposis colorectal cancer (HNPCC) families: co-segregation with disease phenotype and/or bonafide pathogenetic mutations; presence of the variant in healthy...

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Neoplasm

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Share to Neoplasm Proteins

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 10573010
DOI: 10.1038/sj.ejhg.5200363

Genes

MLH1
MSH2

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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