Erblicher Brustkrebs. Was ist relevant?

Breast cancer as it is the most common cancer in women, still remains in the focus of science. 20-30% of the affected women show a family history, underlying a monogenic or polygenic mode of inheritance. On the basis of currently performed multi gene analysis we have been attaining better comprehension concerning moderate and low risk genes. 5-10% of breast cancer disease underlies a monogenic pattern of inheritance of which 30% can be attributed to the cancer susceptibility genes BRCA1 and BRCA2. Meanwhile various possibilities in terms of early detection and preventive measures are available for clinical care. However the individual situation in context of family history and pedigree must be considered in medical consultation. According to current data the individual risk of developing contralateral breast cancer in BRCA1 and BRCA2 mutation carriers can be more specified depending on the age of onset and type of mutation. Referring to most other gene mutations clinical validation is still missing.