BRCA Mutations and Fertility Preservation

Author:

Dias Nunes Joana1,Demeestere Isabelle12,Devos Melody1ORCID

Affiliation:

1. Research Laboratory on Human Reproduction, Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium

2. Fertility Clinic, HUB-Erasme Hospital, Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium

Abstract

Hereditary cancers mostly affect the adolescent and young adult population (AYA) at reproductive age. Mutations in BReast CAncer (BRCA) genes are responsible for the majority of cases of hereditary breast and ovarian cancer. BRCA1 and BRCA2 act as tumor suppressor genes as they are key regulators of DNA repair through homologous recombination. Evidence of the accumulation of DNA double-strand break has been reported in aging oocytes, while BRCA expression decreases, leading to the hypothesis that BRCA mutation may impact fertility. Moreover, patients exposed to anticancer treatments are at higher risk of fertility-related issues, and BRCA mutations could exacerbate the treatment-induced depletion of the ovarian reserve. In this review, we summarized the functions of both genes and reported the current knowledge on the impact of BRCA mutations on ovarian ageing, premature ovarian insufficiency, female fertility preservation strategies and insights about male infertility. Altogether, this review provides relevant up-to-date information on the impact of BRCA1/2 mutations on fertility. Notably, BRCA-mutated patients should be adequately counselled for fertility preservation strategies, considering their higher sensitivity to chemotherapy gonadotoxic effects.

Funder

Fond National de la Recherche Scientifique de Belgique

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Reference154 articles.

1. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries;Sung;CA Cancer J. Clin.,2021

2. (2023, August 29). Breast Cancer. Available online: https://www.europadonna.org/breast-cancer/.

3. (2023, August 29). Breast Cancer Facts and Statistics. Available online: https://www.breastcancer.org/facts-statistics.

4. European Cancer Information System (2020). European Commission Breast Cancer Burden in EU-27, European Commission.

5. (2023, August 29). Breast Cancer in Young Women (Under 40). Available online: https://my.clevelandclinic.org/health/articles/16805-breast-cancer-in-young-women.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3