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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

Cavallaro, Andrea and Russo, Angela and Catania, Vito Emanuele and Ficili, Bartolomea and Romano, Fabrizio and Failla, Andrea Valentino and Cappellani, Alessandro and Cammisuli, Fernardo and Viola, Maria and Madeddu, Roberto Beniamino and Trichilo, Vincenzo and Libra, Massimo and Travali, Salvatore (2014) 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, Vol. 12 (Suppl. 2), S120-S124. ISSN 1743-9191. Article.

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DOI: 10.1016/j.ijsu.2014.08.366

Abstract

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 regions of hMSH2 (NC_000002) and hMLH1 (NC_000003) genes.
Molecular analysis has detected the presence of two mutations in gene MSH2 and one mutation in MHL1 gene. In addition, we found a novel mutation consisting in a G deletion at 914 codon of the exon 16 in the MSH2 gene. This deletion leads to a stop codon due to a frame-shift, resulting in a truncated protein.
We extended genetic analysis to the other family members and the same mutation was detected in three sisters and in one of the two healthy daughters.
This mutation is correlated with clinical findings revealed in genealogic tree and it represents a novel mutation responsible of HNPCC.

Item Type:Article
ID Code:10677
Status:Published
Refereed:Yes
Uncontrolled Keywords:Colorectal cancer, HNPCC, molecular analysis, MMR genes
Subjects:Area 05 - Scienze biologiche > BIO/17 Istologia
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Publisher:Elsevier
ISSN:1743-9191
Copyright Holders:© 2014 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved
Additional Information:Presented at the 27. National Congress of Italian Society of Geriatric Surgery.
Deposited On:22 Jan 2015 13:39

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