Article
Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.
Breast cancer research and treatment - 1 Jan 2010
Konecny Michal, Vizvaryova Miriam, Zavodna Katarina, Behulova Regina, Gerykova Bujalkova Maria, Krivulcik Tomas, Cisarik Frantisek, Kausitz Juraj, Weismanova Eva
Abstract excerpt
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...
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