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Article

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

British journal of cancer - 23 Feb 2004

Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L, Genuardi M, Viel A, Fornasarig M, Lucci-Cordisco E, Anti M, Ponti G, Borghi F, Lamberti I, Roncucci L

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair. We identified 32 kindreds, with germline mutations in one of three genes hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals in each family underwent genetic testing: moreover, we assessed how many mutation-positive...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Source

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Identifiers

PMID: 14970868
DOI: 10.1038/sj.bjc.6601529
PMCID: PMC2410159

Genes

MLH1
MSH2
MSH6

Provenance

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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