Identification of a novel mutations BRCA1c.80 + 3del4 and BRCA2c.6589delA in Slovak HBOC families

Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1...

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Published in:Breast cancer research and treatment 2010, Vol.119 (1), p.233-237
Main Authors: Konecny, Michal, Vizvaryova, Miriam, Zavodna, Katarina, Behulova, Regina, Gerykova Bujalkova, Maria, Krivulcik, Tomas, Cisarik, Frantisek, Kausitz, Juraj, Weismanova, Eva
Format: Article
Language:English
Subjects:
Aged
Base Sequence
Biological and medical sciences
Breast cancer
Breast Neoplasms - genetics
Brief Report
Cancer research
DNA Mutational Analysis
Exons
Family Health
Female
Female genital diseases
Gene Deletion
Gene mutations
Genes
Genes, BRCA1
Genes, BRCA2
Genetic aspects
Genetic disorders
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Medicine
Medicine & Public Health
Middle Aged
Molecular Sequence Data
Mutation
Oncology
Ovarian cancer
Ovarian Neoplasms - genetics
Pedigree
Slovakia
Tumors
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Summary:Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1/2 variants of uncertain clinical significance. Complex RNA/cDNA analysis may constitute the solution and help to interpret the HBOC syndrome in the family. In our study we analyzed the novel, to our knowledge, not yet published mutations identified in Slovak HBOC families, c.80 + 3del4 (IVS2 + 3delAGTC) in BRCA1 gene and mutation c.6589delA (6817delA) in BRCA2 gene. To determine the effect of the BRCA1 mutation, we applied different approaches: segregation analysis of mutation with disease, presence in the set of unaffected controls and finally RNA/cDNA BRCA1 analysis. Novel BRCA2 mutation was determined performing direct sequencing analysis. In conclusion, considering the results from all used techniques we approved the mentioned mutations as seriously pathogenic and disease causing with clear effect on the onset of HBOC syndrome.
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-008-0244-6