Document Detail

Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer.
MedLine Citation:
PMID:  17566669     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: BRAF somatic mutations were reported with high frequency in sporadic colorectal cancers (CRCs) with microsatellite instability (MSI). The hot spot c. 1799 T>A, p.V600E gene mutation is very rarely involved in the tumorigenesis of CRC linked to Hereditary Nonpolyposis Colorectal Cancer (HNPCC). These data suggested that the screening of mismatch repair (MMR) genes could be avoided in cases positive for p.V600E. The aim of our study was to analyze the frequency of this hotspot mutation in a group of 140 CRC patients and the applicability of BRAF 15 exon mutation screening in the diagnosis of HNPCC.
METHODS: Exon 15 of the BRAF gene was PCR amplified and subjected to single-strand conformation polymorphism (SSCP) analysis. Samples showing an altered mobility pattern were then subjected to direct sequencing. Associations between BRAF mutation and clinical, pathological or molecular features were evaluated using Fisher's exact chi-squared tests as appropriate.
RESULTS: The mutation was detected in eight of 140 (5.7%) CRC samples with common characteristic features such as MSI, proximal tumor location, moderate differentiation, mucinous production and early Dukes' stage.
CONCLUSIONS: We conclude that screening for this mutation is an efficient tool in the diagnostic strategy for HNPCC.
Tanya K Kadiyska; Darina V Konstantinova; Venceslav R Atanasov; Ivo M Kremensky; Vanio I Mitev
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Publication Detail:
Type:  Journal Article     Date:  2007-06-12
Journal Detail:
Title:  Cancer detection and prevention     Volume:  31     ISSN:  0361-090X     ISO Abbreviation:  Cancer Detect. Prev.     Publication Date:  2007  
Date Detail:
Created Date:  2007-08-20     Completed Date:  2007-11-27     Revised Date:  2012-06-21    
Medline Journal Info:
Nlm Unique ID:  7704778     Medline TA:  Cancer Detect Prev     Country:  England    
Other Details:
Languages:  eng     Pagination:  254-6     Citation Subset:  IM    
Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology "Maichin Dom", 2 Zdrave str., Sofia 1431, Bulgaria.
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MeSH Terms
Aged, 80 and over
Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*,  genetics
DNA Mismatch Repair
DNA Mutational Analysis / methods*
Gene Frequency
Genetic Testing / methods*
Microsatellite Instability
Middle Aged
Polymorphism, Single-Stranded Conformational
Proto-Oncogene Proteins B-raf / genetics*
Reg. No./Substance:
EC protein, human; EC Proteins B-raf

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