BRCA Mutations and Fertility Preservation

IF 4.9 2区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

International Journal of Molecular Sciences Pub Date : 2023-12-22 DOI:10.3390/ijms25010204

J. Dias Nunes, Isabelle Demeestere, M. Devos

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引用次数: 0

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.

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BRCA 基因突变与生育力保护

遗传性癌症主要影响处于育龄期的青少年和年轻成年人（AYA）。大多数遗传性乳腺癌和卵巢癌病例都是由乳腺癌（BRCA）基因突变引起的。BRCA1 和 BRCA2 是肿瘤抑制基因，因为它们是通过同源重组进行 DNA 修复的关键调节因子。有证据表明，在衰老的卵母细胞中，DNA 双链断裂的积累，而 BRCA 的表达却在减少，这导致了 BRCA 基因突变可能影响生育能力的假设。此外，接受抗癌治疗的患者出现生育相关问题的风险较高，而 BRCA 基因突变可能会加剧治疗引起的卵巢储备耗竭。在这篇综述中，我们总结了这两个基因的功能，并报告了目前关于 BRCA 基因突变对卵巢衰老、卵巢早衰、女性生育力保存策略的影响的知识以及对男性不育的见解。总之，本综述提供了有关 BRCA1/2 基因突变对生育影响的最新信息。值得注意的是，考虑到 BRCA 基因突变患者对化疗性腺毒性效应的敏感性较高，应充分指导他们采取生育力保护策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Molecular Sciences Chemistry-Organic Chemistry

CiteScore

8.10

自引率

10.70%

发文量

13472

审稿时长

17.49 days

期刊介绍： The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).