Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification

The diverse mutational spectrum in the Greek population among hereditary breast and/or ovarian cancer patients was recently described in detail, concerning predominantly BRCA1, followed by BRCA2 pathogenic variants. Interestingly, about 75% of all BRCA1 pathogenic variants are located at the 3 ΄ end of the gene, attributed mainly to strong founder effects, while BRCA2 pathogenic variants are scattered along the gene sequence. Although the Greek population is characterized by genetic heterogeneity, Greek founder pathogenic variants account for approximately 68.5% of all BRCA1 pathogenic v ariants detected, suggesting a reasonable first-step screening of breast and/or ovarian cancer patients for such variants [1].

Source: Cancer Genetics and Cytogenetics - June 11, 2019 Category: Genetics & Stem Cells Authors: Myrto Papamentzelopoulou, Paraskevi Apostolou, Florentia Fostira, Constantine Dimitrakakis, Dimitris Loutradis, George Fountzilas, Drakoulis Yannoukakos, Irene Konstantopoulou Source Type: research