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Updated: Apr 19, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Impact of BRCA1/2 mutation on young women's 5-year parenthood rates: a prospective comparative study (GENEPSO-PS
Julien Mancini1, Emmanuelle Mouret-Fourme, Catherine Noguès
1Aix Marseille Université, Inserm, IRD, UMR912 SESSTIM, 13385, Marseille, France, julien.mancini@univ-amu.fr.
Abstract:
Previous qualitative and intentions surveys have shown that the disclosure of a BRCA1/2 mutation might deter young women from becoming pregnant. However, to our knowledge, no comparative studies have ever documented the possibility that positive genetic test results might affect these women's future reproductive rates. Our aim was therefore to quantify the impact of BRCA1/2 mutation disclosure on long-term relationships between partners and childbearing rates. Participants were cancer-free women belonging to families in which a deleterious BRCA1/2 mutation had been identified, who had attended one of the 29 participating cancer genetic clinics for BRCA1/2 testing between 2000 and 2006. Logistic regression models were used to determine predictors of the 5-year self-reported parenthood rate. The sample consisted of 271 women aged 18-45 years (126 BRCA1/2 mutation carriers and 145 non-carriers). Couples had separated more frequently among BRCA1/2 carriers than non-carriers (10 vs. 3%, p = .040), especially among nulliparous carriers (13%). Among the 104 women who were childless at disclosure, disclosure of a BRCA1/2 mutation was not significantly associated with childbearing during the 5-year follow-up period [adjusted odds ratio .64, 95% confidence interval (CI) (.26, 1.57), p = .334]. Among the 167 women with at least one child at disclosure of a BRCA1/2 mutation had no conspicuous effect on the childbearing trends [adjOR .88, 95% CI (.35, 2.21), p = .787]. The disclosure of a BRCA1/2 mutation might impact couples' relationships and future mothering rates, particularly among nulliparous women. Studies on larger populations are now required to confirm these findings.
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