BRCA Mutations and Fertility Preservation
2023
Joana Dias Nunes | Isabelle Demeestere | Melody Devos
Hereditary cancers mostly affect the adolescent and young adult population (AYA) at reproductive age. Mutations in <i>BReast CAncer</i> (<i>BRCA</i>) genes are responsible for the majority of cases of hereditary breast and ovarian cancer. <i>BRCA1</i> and <i>BRCA2</i> 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 <i>BRCA</i> expression decreases, leading to the hypothesis that <i>BRCA</i> mutation may impact fertility. Moreover, patients exposed to anticancer treatments are at higher risk of fertility-related issues, and <i>BRCA</i> 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 <i>BRCA</i> 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 <i>BRCA1/2</i> mutations on fertility. Notably, <i>BRCA</i>-mutated patients should be adequately counselled for fertility preservation strategies, considering their higher sensitivity to chemotherapy gonadotoxic effects.
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