BRCA mutations in breast cancer

Genetic testing for BRCA1 and BRCA2 mutations can provide important information for women who are concerned about their breast and ovarian cancer risks and need to make relevant prevention and medical management decisions.

To date, lifetime risks of breast cancer in individual BRCA1/2 mutation carriers have been challenging to apply in clinical decision making. Published risk estimates vary significantly and are very dependent on the characteristics of the population under study. You can read more about in this article (free PDF download).

Another study interpreted validated functional data from the transactivation activity of BRCA1 in combination with analysis of protein modelling based on the structure of BRCA1 BRCT domains. With additional clinical and structural evidence, they were able to classify all missense variants in the BRCA1 COOH-terminal region. These results brought functional assays for BRCA1 closer to clinical applicability.

Cancer risks in a population-based study of BRCA1/2 mutation carriers have been recently estimated, but the numbers are still in their infancy and may be influenced by different risk factors. It is likely that there is broad variation in breast cancer risk among carriers of BRCA1 and BRCA2 mutations and ethnicity may also confer differences in risks associated with BRCA mutations.