Hereditary Breast Cancer

Advances in next-generation sequencing have made panel testing an evolving tool when looking for mutations in others than the BRCA1/BRCA2 genes. However, the uncertainty about clinical utility and the possibility of unexpected results stresses the relevancy of appropriate pretest and post-test counselling by a knowledgeable genetics professional. The optimal local management after a BRCA mutation carrier is diagnosed with breast cancer (BC) remains unresolved. Recent evidence supports the potential survival benefit of bilateral mastectomy in healthy carriers and contralateral prophylactic mastectomy and patients with good-prognosis first breast cancer presentation. Current clinical trials in hereditary BC are focussed on testing the efficacy of platinum analogues and inhibition of DNA repair pathways.