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Article

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

Human mutation - 1 Apr 2003

Bartosova Zdena, Fridrichova Ivana, Bujalkova Maria, Wolf Brigitte, Ilencikova Denisa, Krizan Peter, Hlavcak Peter, Palaj Julius, Lukac Ludovit, Lukacova Margita, Böör Andrej, Haider Ritva, Jiricny Josef, Nyström-Lahti Minna, Marra Giancarlo

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly-inherited cancer predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and ovary is linked to germline mutations in DNA mismatch repair (MMR) genes. We have recently initiated a cancer prevention program in suspected HNPCC families in the Slovak Republic. The first ten families fulfilling Amsterdam criteria or...

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

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Source

Identifiers

PMID: 12655568
DOI: 10.1002/humu.9127

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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