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Minerva Surgery 2021 December;76(6):564-74

DOI: 10.23736/S2724-5691.21.09009-2


lingua: Inglese

Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature review and current state of the art

Daniela A. TERRIBILE 1, 2, Elena J. MASON 2 , Federica MURANDO 2, Alba DI LEONE 2, Alejandro M. SANCHEZ 2, Lorenzo SCARDINA 2, Stefano MAGNO 2, Antonio FRANCO 2, Sabatino D’ARCHI 2, Maria NATALE 2, Emanuela LUCCI CORDISCO 3, Riccardo MASETTI 1, 2, Gianluca FRANCESCHINI 1, 2

1 Department of Medical and Surgical Sciences, Sacred Heart Catholic University, Rome, Italy; 2 Multidisciplinary Breast Center, Department of Health Sciences of Woman and Child and Public Health, IRCCS A. Gemelli University Polyclinic Foundation, Rome, Italy; 3 Department of Genomic Medicine, Sacred Heart Catholic University, Rome, Italy

Surgical management of breast cancer patients carrying pathogenic variants (PV) on breast cancer genes (BRCA) 1 and 2 has changed throughout the last decade due to growing availability of genetic testing, and has shifted towards the diffusion of bilateral mastectomy. Today’s scenario however is in further evolution because of emerging data that suggest a personalized modulation of treatment. In this work we aimed to gather recent evidence supporting a prophylactic or conservative surgical approach in order to define the state of the art in today’s treatment of BRCA carriers with breast cancer. We reviewed the literature to identify studies providing evidence on surgical treatment in breast cancer patients with BRCA 1 and 2 PVs. We included articles comparing outcomes between patients undergoing breast conserving surgery (BCS) and mastectomy, and articles investigating contralateral risk-reducing mastectomy (CRRM), with a particular focus on recent literature. International guidelines were also reviewed. Optimal surgical management of BRCA PV carriers with breast cancer remains controversial. While the introduction of routine genetic testing has initially led surgeons to favor more radical treatments, recent literature provides evidence that a conservative approach is safe and feasible in selected cases. Guidelines are heterogeneous and provide guidance without constraining the surgeon. Patients should undergo adequate genetic and surgical counseling in order to receive the best tailored surgical treatment. Because guidelines vary in different countries and provide no definite protocol, they highlight the importance of accurate surgical planning. Clinical, familial and psychosocial factors should be taken into account when approaching a BRCA PV carrier with breast cancer, in order to guarantee the best evidence-based patient care in an era of personalized treatment.

KEY WORDS: Breast neoplasms; Prophylactic mastectomy; Precision medicine

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