Hereditary Women's Cancer: Management and Risk-Reducing Surgery

Sep 24, 2026

Hereditary women’s syndromes caused by inherited mutations elevate lifetime risk for gynecological cancers in affected carriers. BRCA1/2 mutations, Lynch syndrome, and rare hereditary syndromes increase risk and call for more effective management combining surveillance and prophylactic approaches. Counseling focuses on risk-reducing surgery (RRS), timing, and adverse effects on premenopausal status, hormonal quality of life, bone density, sexual activity, and cardiological or vascular outcomes. Risk-reducing salpingo-oophorectomy (RRSO) is the standard for BRCA-mutated patients, while the role of prophylactic hysterectomy remains underinvestigated despite questions about endometrial cancer risk.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages11

Reading Time28 min

AccessFree to download

Introduction

BRCA Syndrome

Hereditary Women's Cancer

BRCA Syndrome

medicina Review Hereditary Women's Cancer: Management and Risk-Reducing Surgery Carmine Conte 1, *, Silvia Pelligra 2, Giuseppe Sarpietro 1, Giuseppe Dario Montana 1, Luigi Della Corte 3, Giuseppe Bifulco 4, Canio Martinelli 5, Alfredo Ercoli 5, Marco Palumbo 1 and Stefano Cianci 5 Citation: Conte, C.; Pelligra, S.; Sarpietro, G.; Montana, G.D.; Della Corte, L.; Bifulco, G.; Martinelli, C.; Ercoli, A.; Palumbo, M.; Cianci, S. Hereditary Women's Cancer: Management and Risk-Reducing Surgery. Medicina 2023, 59, 300 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)medicina59020300 Academic Editor: Masafumi Koshiyama Received: 13 December 2022 Revised: 24 January 2023 Accepted: 31 January 2023 Published: 6 February 2023 Copyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . 1 Department of General Surgery and Medical-Surgical Specialties, Institute of Obstetrics and Gynecology, A.O.U. Policlinico Rodolico, San Marco, University of Catania, 95125 Catania, Italy 2 Department of Woman and Child Health and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy 3 Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, 80131 Naples, Italy 4 Department of Public Health, University of Naples Federico II, 80131 Naples, Italy 5 Unit of Gynecology and Obstetrics, Department of Human Pathology of Adult and Childhood “G. Barresi”, University of Messina, 98121 Messina, Italy * Correspondence: [carmine.conte87@gmail.com](carmine.conte87@gmail.com); Tel.: +39-3290275147 Abstract: Hereditary women's syndromes due to inherited mutations result in an elevated risk of developing gynecological cancers over the lifetime of affected carriers. The BRCA 1 and 2 mutations, Lynch syndrome (LS), and mutations in rare hereditary syndromes increase this risk and require more effective management of these patients based on surveillance and prophylactic surgery. Patients need counseling regarding risk-reducing surgery (RRS) and the time required to perform it, considering the adverse effects of premenopausal surgery and the hormonal effect on quality of life, bone density, sexual activity, and cardiological and vascular diseases. Risk-reducing salpingo-oophorectomy (RRSO) is the gold standard for BRCA-mutated patients. An open question is that of endometrial cancer (EC) risk in patients with BRCA1/2 mutation to justify prophylactic hysterectomy during RRSO surgical procedures. RRS provides a 90–95% risk reduction for ovarian and breast cancer in women who are mutation carriers, but the role of prophylactic hysterectomy is underinvestigated in this setting of patients. In this review, we evaluate the management of the most common hereditary syndromes and the benefits of risk-reducing surgery, particularly exploring the role of prophylactic hysterectomy. Keywords: risk-reducing surgery; abdominal hysterectomy; bilateral salpingo-oophorectomy; hereditary cancers; BRCA syndrome 1. Introduction Pathogenic variants in genes, usually associated with the regulation of cellular replication and double-strand DNA break repair, are often associated with hereditary cancers (HCs). BRCA mutations and Lynch syndrome are the most common hereditary conditions associated with cancers. BRCA1/2 syndrome involves an increased risk, higher than that of the general population, for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and prostate and pancreatic cancer [1] . Lynch syndrome is an autosome-dominant condition characterized by DNA mismatch repair (MMR) gene mutations tha

FAQs

What hereditary conditions are most commonly linked to gynecological cancer risk?

BRCA mutations and Lynch syndrome are described as the most common hereditary conditions associated with cancers, with BRCA1/2 raising risks for multiple cancers and Lynch syndrome predisposing family members through DNA mismatch repair defects.

Why is counseling important for risk-reducing surgery (RRS)?

Counseling addresses the RRS process and required time, balancing adverse effects of premenopausal surgery and hormonal impact on quality of life, bone density, sexual activity, and cardiological or vascular diseases.

What is the standard risk-reducing procedure for BRCA-mutated patients, and what is still uncertain?

Risk-reducing salpingo-oophorectomy (RRSO) is presented as the gold standard for BRCA-mutated patients, while the role of prophylactic hysterectomy—especially regarding endometrial cancer risk—remains an open question and is underinvestigated.

Sep 24, 2026

Uploaded by pixelkiddo