Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.

doi:10.1016/j.ijsu.2014.08.366

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Article

Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.

International journal of surgery (London, England) - 1 Jan 2014

Cavallaro Andrea, Russo Angela, Catania Vito Emanuele, Ficili Bartolomea, Romano Fabrizio, Failla Andrea Valentino, Cappellani Alessandro, Cammisuli Ferdinando, Viola Maria, Madeddu Roberto, Trichilo Vincenzo, Libra Massimo, Travali Salvatore

Abstract excerpt

HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes. The inherited mutation in one allele together with an acquired defect in the other allele of an MMR gene leads to accelerate tumor progression. In this study we analyzed a cohort of 11 subjects belonging to four Sicilian families with HNPCC suspected by molecular analysis of coding...

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PMID: 25200962
DOI: 10.1016/j.ijsu.2014.08.366

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MSH2

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