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Article

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.

Scandinavian journal of gastroenterology - 1 Jun 2007

de Leon Maurizio Ponz, Benatti Piero, Di Gregorio Carmela, Losi Lorena, Pedroni Monica, Ponti Giovanni, Genuardi Maurizio, Viel Alessandra, Lucci-Cordisco Emanuela, Rossi Giuseppina, Roncucci Luca

Abstract excerpt

OBJECTIVE: A unique mutation of the MLH1 gene was recently reported in six families living in a small area of Northern Italy. The mutation consists in the insertion of a T base between nucleotides 2269 and 2270 (2269-2270insT), causing the synthesis of an unstable polypeptide. The mutation was not reported by other investigators or outside this small geographic area, thus suggesting a possible founder effect. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17505997
DOI: 10.1080/00365520601026681

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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