The genetics of breast cancer

Abstract

Only a small proportion of all female breast cancer can be accounted for by the inheritance of a germline mutation in a cancer predisposition gene. However, for the individuals affected the risk of developing cancer can be very high. It is likely that the development of cancer may be modulated by other factors such as endogenous or exogenous hormonal exposure and research is continuing in this area to try to find preventative agents. Testing for mutations in these genes is possible, although currently a live affected family member is necessary for the identification of the specific familial mutation before predictive testing of unaffected family members is possible. Specialist genetic counselling of these families is necessary to provide information about cancer risks, advice about screening and cancer prevention and the implications for other family members.