Hereditary breast cancer and handling of patients at risk

The identification of BRCA1 and BRCA2, the two known genes causing a dominantly inherited susceptibility for breast and ovarian cancer has allowed genetic testing and identification of high risk individuals in a proportion of breast cancer families. In the future, when both the surveillance methods and prophylactic measures will be further developed this will have even more important clinical value in the management of breast cancer families. To date, as prophylactic mastectomy and/or oophorectomy have been shown to offer a significant risk reduction, these should be considered at least for known mutation carriers. Before considering this, patients should be referred for genetic counseling including risk assessment and genetic testing. Identification of a mutation in the family facilitates carrier detection by allowing predictive testing of healthy individuals. In mutation positive families, a negative test result for an individual has great value as it releases from coping with high risk of cancer and from intensive surveillance. When prophylactic surgery is considered, young age is an important determinant. A skin-sparing mastectomy with implant or autologous tissue transfer is the reconstruction method of choice. Other options like surveillance or chemoprevention can be accepted, but their uncertainty should be pointed out.