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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.
- Source :
-
International journal of surgery (London, England) [Int J Surg] 2014; Vol. 12 Suppl 2, pp. S120-S124. Date of Electronic Publication: 2014 Sep 06. - Publication Year :
- 2014
-
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&#95;000002) and hMLH1 (NC&#95;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.<br /> (Copyright © 2014 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.)
- Subjects :
- Adult
Female
Genetic Testing
Germ-Line Mutation
Humans
Male
Middle Aged
MutL Protein Homolog 1
Mutation
Pedigree
Sicily
Young Adult
Adaptor Proteins, Signal Transducing genetics
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
DNA Mismatch Repair genetics
MutS Homolog 2 Protein genetics
Nuclear Proteins genetics
White People genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1743-9159
- Volume :
- 12 Suppl 2
- Database :
- MEDLINE
- Journal :
- International journal of surgery (London, England)
- Publication Type :
- Academic Journal
- Accession number :
- 25200962
- Full Text :
- https://doi.org/10.1016/j.ijsu.2014.08.366