Article Abstract

Management of BRCA mutation carriers

Authors: Ida Paris, Danilo Di Giorgio, Eleonora Palluzzi, Giorgia Garganese, Daniela Andreina Terribile, Simona Maria Fragomeni, Sabatino D’Archi, Giovanni Scambia, Riccardo Masetti

Abstract

Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2, with high penetrance are supposed to be the cause for an approximated 5–7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated (BRCAmut) BC differs for lifetime risk of onset and sensitivity to systemic therapies. A hereditary BC syndrome should be taken into account when there are numerous relatives with BC early-onset (typically before menopause). Moreover, BRCAmut carriers showed a lifetime possibility of manifesting OC. When a BC diagnosis is made in young patients or in suspicious personal relatives’ anamnesis, be aware of being carriers of a BRCA mutation may influence the decision making-process about surgical procedure and prevention strategies. In this review, we examined surgical treatment choice for BRCAmut BC, risk of ipsilateral breast recurrence (IBR) and contralateral breast cancer (CBC). We examined the role of breast-conserving therapy (BCT), risk-reducing mastectomy (RRM) and preventive risk-reducing salpingo-oophorectomy (RRSO) with a special consideration about advantage in terms of mortality reduction for both conservative and prophylactic measures. We also reviewed the sensitivity of mutated BC to platinum-based antineoplastic drugs and poly (ADP-ribose) polymerase inhibitors (PARPi) by emphasizing the results of clinical trials recently published.