Background: Hereditary breast cancer is thought to account for less than 10 per cent of all breast cancers. Recently there have been significant advances in understanding of the genetics, with the sequencing of the genes BRCA1 and BRCA2 which are associated with hereditary breast cancer.
Methods and results: Current understanding of hereditary breast cancer and its impact on the management of women with this disease is reviewed.
Conclusion: Problems in accurate testing for breast cancer-associated genes remain. No reliable simple test exists because of the large number of mutations present in these genes. The implications of different mutations remain poorly understood. Guidelines for the management of carriers of the breast cancer-associated genes remain controversial.