Five to 10 percent of all breast cancers are monogenic in origin. In other words, there is a mutation of the genes BRCA1, BRCA2 or other high-risk genes. In a recent edition of Deutsches Ärzteblatt International, Alfons Meindl of the Klinikum rechts der Isar (Munich) and coauthors report on new insights into the pathogenesis and treatment of hereditary breast and ovarian cancer and newly-discovered risk genes.
Meindl et al. 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% and an ovarian cancer risk of up to 50%. 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% to 4% 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.
In Germany, breast cancer is the most common malignant disease in women and ovarian cancer the gynecological tumor with the highest mortality rate. There may be a hereditary cancer burden even if only two or more women, or one young woman, in a family develop the disease.
- Alfons Meindl, Nina Ditsch, Karin Kast, Kerstin Rhiem, Rita K. Schmutzler. Hereditary Breast and Ovarian Cancer: New Genes, New Treatments, New Concepts. Deutsches Ärzteblatt International, 2011 DOI: 10.3238/arztebl.2011.0323
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