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Article

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

International journal of colorectal disease - 1 Sept 2013

Pérez-Cabornero Lucía, Infante Mar, Velasco Eladio, Lastra Enrique, Miner Cristina, Durán Mercedes

Abstract excerpt

BACKGROUND: Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by heterozygous mutations in mismatch repair (MMR) genes. Approximately 85 % of genetically defined HNPCC patients have germline mutations in MLH1 and MSH2. HNPCC patients are at increased risk of developing extracolonic cancers. The early age of onset, predominantly right-sided colon cancers, and synchronous and metachronous cancers are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23588873
DOI: 10.1007/s00384-013-1685-x

Genes

MSH2
MLH1
MSH6

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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