Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review

Author:

Bertozzi Serena12ORCID,Londero Ambrogio23ORCID,Xholli Anjeza4ORCID,Azioni Guglielmo4,Di Vora Roberta1,Paudice Michele56,Bucimazza Ines7,Cedolini Carla12,Cagnacci Angelo34ORCID

Affiliation:

1. Breast Unit, University Hospital of Udine, 33100 Udine, UD, Italy

2. Ennergi Research (Non-Profit Organisation), 33050 Lestizza, UD, Italy

3. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Infant Health, University of Genoa, 16132 Genova, GE, Italy

4. Academic Unit of Obstetrics and Gynecology, IRCCS Ospedale San Martino, 16132 Genoa, GE, Italy

5. Anatomic Pathology Unit, Department of Surgical Sciences, and Integrated Diagnostics (DISC), University of Genoa, 16132 Genoa, GE, Italy

6. Anatomic Pathology Unit, IRCCS Ospedale San Martino, 16132 Genoa, GE, Italy

7. Department of Surgery, Nelson R. Mandela School of Medicine, University of KwaZulu Natal, Durban 4001, South Africa

Abstract

This narrative review aims to clarify the role of breast and gynecological risk-reduction surgery in BRCA mutation carriers. We examine the indications, contraindications, complications, technical aspects, timing, economic impact, ethical issues, and prognostic benefits of the most common prophylactic surgical options from the perspectives of a breast surgeon and a gynecologist. A comprehensive literature review was conducted using the PubMed/Medline, Scopus, and EMBASE databases. The databases were explored from their inceptions to August 2022. Three independent reviewers screened the items and selected those most relevant to this review’s scope. BRCA1/2 mutation carriers are significantly more likely to develop breast, ovarian, and serous endometrial cancer. Because of the Angelina effect, there has been a significant increase in bilateral risk-reducing mastectomy (BRRM) since 2013. BRRM and risk-reducing salpingo-oophorectomy (RRSO) significantly reduce the risk of developing breast and ovarian cancer. RRSO has significant side effects, including an impact on fertility and early menopause (i.e., vasomotor symptoms, cardiovascular disease, osteoporosis, cognitive impairment, and sexual dysfunction). Hormonal therapy can help with these symptoms. Because of the lower risk of developing breast cancer in the residual mammary gland tissue after BRRM, estrogen-only treatments have an advantage over an estrogen/progesterone combined treatment. Risk-reducing hysterectomy allows for estrogen-only treatments and lowers the risk of endometrial cancer. Although prophylactic surgery reduces the cancer risk, it has disadvantages associated with early menopause. A multidisciplinary team must carefully inform the woman who chooses this path of the broad spectrum of implications, from cancer risk reduction to hormonal therapies.

Publisher

MDPI AG

Subject

General Medicine

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