Impact of BRCA1/2 status on young women&#39;s sexual function, relationships, and reproduction after predictive genetic testing

Forrest, LE; Forbes Shepherd, R; Spelman, T; Keogh, L; Young, MA; Powell, S; Beard, C; Salmon, L; Warwick, L; Williams, R; Burke, J; D&#39;Souza, R; James, PA

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;
Details: Publication Year 2026-09,Volume 34,Issue #9,Page 1393-1398
Journal Title: European Journal of Human Genetics
Publication Type: Research article
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.
Publisher: Springer Nature
Keywords: Humans; Female; *BRCA2 Protein/genetics; Adolescent; Adult; *BRCA1 Protein/genetics; *Genetic Testing; Young Adult; *Reproduction; *Sexual Behavior; Case-Control Studies; Australia
Department(s): Familial Cancer Centre; Health Services Research
Publisher's Version: https://doi.org/10.1038/s41431-025-02010-9
Open Access at Publisher's Site: https://doi.org/10.1038/s41431-025-02010-9
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2026-01-20 05:38:38

Last Modified: 2026-10-28 06:10:08