Genetic Syndromes and RT for Breast Cancer

Bernstein‐Molho, Rinat; Kaufman, Bella; Wyld, Lynda

doi:10.1007/978-3-030-91170-6_48

Cited by 1 publication

(1 citation statement)

References 65 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several germline mutations that increase the risk of developing BC have been identified in genes such as BReast CAncer genes 1 and 2 ( BRCA1/2 ), Tumor protein p53 ( TP53 ), Partner and Localizer of BRCA2 ( PALB2 ), phosphatase and tensin homolog ( PTEN ) and mutated ataxia-telangiectasia ( ATM ) [ 8 ]. The most prevalent mutations occur in BRCA1 and BRCA2 genes with around 50% of young hereditary BC patients carrying a germline mutation for one of those genes [ 9 , 10 ]. In addition to BC, both gene mutations expose carriers to an increased risk for ovarian, pancreatic and prostate cancers [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

BRCA Mutations and Fertility Preservation

Dias Nunes,

Demeestere,

Devos

2023

IJMS

View full text Add to dashboard Cite

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.

show abstract