Impact of BRCA1/2 status on young women's sexual function, relationships, and reproduction after predictive genetic testing
- Author(s)
- Forrest, LE; Forbes Shepherd, R; Spelman, T; Keogh, L; Young, MA; Powell, S; Beard, C; Salmon, L; Warwick, L; Williams, R; Burke, J; D'Souza, R; James, PA;
- Journal Title
- European Journal of Human Genetics
- Publication Type
- Online publication before print
- Abstract
- The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women's reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18-40 years who had predictive BRCA1/2 testing, received either a positive or negative result, and had no personal cancer history, completed an online survey that used a case-control design. Outcome measures included childbearing, use of reproductive technologies, relationship status, and sexual functioning. 579 women participated (62.0% with a BRCA1/2 PV; 38.0% without a BRCA1/2 PV). More women with a BRCA1/2 PV had children compared to those who did not (49.0% c.f., 40.5%; p = 0.045). BRCA1/2 status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient -0.08; 95% CI -1.15, 0.98). Women with a BRCA1/2 PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a BRCA1/2 PV, after adjustment for confounders. Receiving a positive predictive BRCA1/2 result is associated with an increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive BRCA1/2 result. These findings contribute to the evidence base to inform long-term follow-up for women after predictive BRCA1/2 testing.
- Department(s)
- Familial Cancer Centre; Health Services Research
- Publisher's Version
- https://doi.org/10.1038/s41431-025-02010-9
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Creation Date: 2026-01-20 05:38:38
Last Modified: 2026-01-20 05:38:55