Daniele La Forgia1, Sergio Diotaiuti2, Rossana Altieri2, Nicola Cortese2, Maria Digennaro3, Annarita Fanizzi4, Margherita Patruno3, Raffaella Massafra4, Angelo Virgilio Paradiso3

1I.R.C.C.S. Istituto Tumori ‘Giovanni Paolo II’, Radiodiagnostica Senologica, Bari, Italy.

2I.R.C.C.S. Istituto Tumori ‘Giovanni Paolo II’, Chirurgia Senologica, Bari, Italy.

3I.R.C.C.S. Istituto Tumori ‘Giovanni Paolo II’, Oncologia Sperimentale e Biobanca, Bari, Italy.

4I.R.C.C.S. Istituto Tumori ‘Giovanni Paolo II’, Fisica Medica, Bari, Italy.

Purpose: Risk-reducing mastectomy (RRM) is recommended for individuals with a significantly increased risk of developing breast cancer, particularly in cases of BRCA 1/2 genetic mutations. However, factors beyond genetic mutations may influence the decision to undergo RRM. This study aimed to investigate these factors.

Methods: The characteristics of a consecutive series of women who underwent RRM at the National Cancer Institute of Bari from 2015 to 2018 were analyzed. Data on BRCA testing, family history, age at surgery, prophylactic surgery (concomitant or delayed), curative cancer surgery, imaging findings, and histology were compared.

Results: A total of 60 women (8 bilateral RRM, 52 contralateral RRM) were included in the study. While the decision to undergo RRM was based on the presence of a genetic pathogenic variant in 51.6% of cases, 48.4% of women opted for RRM despite negative or unavailable test results. Bilateral RRM was chosen only by women with a germline BRCA mutation. Multivariate analysis confirmed that BRCA testing was a significant factor influencing the decision for RRM but not the sole factor.

Conclusions: BRCA testing played a prevalent role in the decision-making process for RRM, but other factors were also relevant. To reduce the heterogeneity in approaching RRM, the authors suggest implementing multidisciplinary approaches, adopting clear clinical pathways within hospitals, and initiating social education programs to mitigate perceptions of risk and expectations for preventive practices.

Keywords: risk-reducing mastectomy, BRCA, decision-making process.

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