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

Laura E Forrest; Rowan Forbes Shepherd; Timothy Spelman; Louise Keogh; Mary-Anne Young; Sarah Powell; Catherine Beard; Lucinda Salmon; Linda Warwick; Rachel Williams; Jo Burke; Rebecca D'Souza; Paul A James

doi:10.1038/s41431-025-02010-9

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

Eur J Hum Genet. 2026 Jan 3. doi: 10.1038/s41431-025-02010-9. Online ahead of print.

Authors

Laura E Forrest^{1

2

3

4}, Rowan Forbes Shepherd^{5

6}, Timothy Spelman^{6

7}, Louise Keogh⁸, Mary-Anne Young⁹, Sarah Powell¹⁰, Catherine Beard^{5

11}, Lucinda Salmon¹², Linda Warwick¹³, Rachel Williams^{14

15

16}, Jo Burke¹⁷, Rebecca D'Souza¹⁸, Paul A James^{5

6

11}

Affiliations

¹ Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia. laura.forrest@petermac.org.
² Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. laura.forrest@petermac.org.
³ Department of Medicine-Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia. laura.forrest@petermac.org.
⁴ Centre for Health Services Research in Cancer, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. laura.forrest@petermac.org.
⁵ Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
⁶ Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia.
⁷ Centre for Health Services Research in Cancer, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
⁸ Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
⁹ Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
¹⁰ Inherited Cancers Australia, Narrabeen, NSW, Australia.
¹¹ Department of Medicine-Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.
¹² Clinical Genetics, Austin Health, Heidelberg, VIC, Australia.
¹³ ACT Genetics Service, ACT Health, Phillip, ACT, Australia.
¹⁴ Hereditary Cancer Centre, Prince of Wales, Randwick, NSW, Australia.
¹⁵ Hereditary Cancer Centre, St George Hospital, Kogarah, NSW, Australia.
¹⁶ Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
¹⁷ School of Medicine, University of Tasmania, Hobart, TAS, Australia.
¹⁸ Genetics Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.

PMID: 41484459
DOI: 10.1038/s41431-025-02010-9

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.