Home CONTACT Neoplasma 2007 Neoplasma Vol.54, p.137-142, 2007

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Founded: 1954
ISSN 0028-2685
ISSN 1338-4317 (online)

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Neoplasma Vol.54, p.137-142, 2007

Title: The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families
Author: M. KONECNY, M. VIZVARYOVA, E. WEISMANOVA, D. ILENCIKOVA, I. MLKVA, P. WEISMANN, G. MACHACKOVA, J. KAUSITZ

Abstract: Pathogenic germline mutations in BRCA1 and BRCA2 account for the majority of hereditary breast/ovarian cancer cases. The analysis of BRCA1 gene was carried out in 156 breast/ovarian cancer families: 82 families with strong family history and 59 families with medium family history. Generally, 31 families and 71 cases with BRCA1 pathologic mutations (14 different types) were identified in this study by combination of SSCP and direct sequencing techniques. Using approved systematic nomenclature numbering, c.5266dupC (8 families, 21 cases), c.181T>G (5 families, 11 cases), c.68_69delAG (3 families, 5 samples) and c.843_846del4 (3 families, 4 samples) were the most frequently found mutations in BRCA1 gene. Altogether these 4 mutations accounted for 61.3% of all detected pathogenic mutations in BRCA1. One novel mutation c.1166delG was detected in one family (4 cases). Frame-shift mutations were found in 21 families (46 cases), nonsense mutations in 4 families (8 cases) and missense mutations in 6 families (17 cases). Even though the 4 most frequent mutations account for 61.3% of all detected pathogenic mutations, screening of the whole BRCA1 coding region is necessary, due to the large scale of low frequency disease causing mutations in breast/ovarian cancer families in Slovakia.

Keywords: BRCA1, breast cancer, mutation analysis, ovarian cancer, Slovak population
Year: 2007, Volume: 54, Issue: Page From: 137, Page To: 142

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