Genetics of breast cancer: management strategies and risk-reducing surgery

Abstract

The last two decades have witnessed major advances in genetic sequencing which have led to more accurate identification of women at risk of developing breast cancer and calculating the associated cancer risk. This review discusses the current genetic mutations conferring risk of developing breast cancer and the management pathway for these women with identifiable mutations as well as those with a strong family history for breast cancer. Management of these individuals is complex and should involve a multidisciplinary team with interest and expertise in breast cancer genetics. There are several treatment options ranging from surveillance to risk-reducing surgery. Risk reduction surgery has been popularised by celebrities who are carriers of breast cancer genes, and raised public awareness of breast cancer genetics and associated risk.