A recent study has shed light into the pathogenesis and treatment of hereditary breast and ovarian cancer and the newly discovered risk genes.
Alfons Meindl of the Klinikum rechts der Isar (Munich) and co-authors evaluated data including those derived from the work of the German Consortium for Hereditary Breast and Ovarian Cancer.
It was shown that if BRCA1 or BRCA2 is mutated, there is a breast cancer risk of up to 85 percent and an ovarian cancer risk of up to 50 percent.
Another predisposing gene for breast and ovarian cancer is RAD51C. Like BRCA1 and BRCA2, it plays a central role in DNA repair and is mutated in approximately 1.5 percent to 4 percent of all families predisposed towards breast and ovarian cancer.
When there is evidence of a high-risk gene mutation, the authors recommend intensive risk-adjusted screening. Risk can be reduced by prophylactic bilateral removal of the breasts and ovaries.
In the future, drug-based approaches to risk reduction may also be possible.
The study has been published in Deutsches Arzteblatt International.