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

European Journal of Human Genetics (2026)Cite this article

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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.

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Data availability

The dataset generated and analysed during the current study is not publicly available to protect study participants’ privacy.

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Acknowledgements

The authors acknowledge Alexandra Lewis and Tess Schenberg for their assistance with the face validity testing. We acknowledge and thank the women who completed the survey. We also thank Inherited Cancers Australia for their support in sharing the study information with the community of women with a BRCA1/2 PV.

Funding

A/Prof Laura Forrest was awarded a postdoctoral fellowship from the National Breast Cancer Foundation, Australia (PF 14-009) to undertake this study.

Author information

Authors and Affiliations

  1. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia

    Laura E. Forrest, Rowan Forbes Shepherd, Catherine Beard & Paul A. James

  2. Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia

    Laura E. Forrest, Rowan Forbes Shepherd, Timothy Spelman & Paul A. James

  3. Department of Medicine–Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia

    Laura E. Forrest, Catherine Beard & Paul A. James

  4. Centre for Health Services Research in Cancer, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia

    Laura E. Forrest & Timothy Spelman

  5. Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia

    Louise Keogh

  6. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia

    Mary-Anne Young

  7. Inherited Cancers Australia, Narrabeen, NSW, Australia

    Sarah Powell

  8. Clinical Genetics, Austin Health, Heidelberg, VIC, Australia

    Lucinda Salmon

  9. ACT Genetics Service, ACT Health, Phillip, ACT, Australia

    Linda Warwick

  10. Hereditary Cancer Centre, Prince of Wales, Randwick, NSW, Australia

    Rachel Williams

  11. Hereditary Cancer Centre, St George Hospital, Kogarah, NSW, Australia

    Rachel Williams

  12. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia

    Rachel Williams

  13. School of Medicine, University of Tasmania, Hobart, TAS, Australia

    Jo Burke

  14. Genetics Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia

    Rebecca D’Souza

Authors
  1. Laura E. Forrest
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  13. Paul A. James
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Contributions

LEF, RFS, MAY, LK and PAJ conceptualised and designed the study; CB, LS, LW, RW, JB and RD conducted recruitment at each participating site; SP partnered as a consumer representative and facilitated recruitment via Inherited Cancers Australia; TS conducted the statistical analysis; LEF drafted the manuscript and all authors reviewed and approved the final version.

Corresponding author

Correspondence to Laura E. Forrest.

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Competing interests

The authors declare no competing interests.

Ethical approval

This research was performed in accordance with the Declaration of Helsinki and received multi-site ethics approval from the Peter MacCallum Cancer Centre Human Research Ethics Committee (HREC/17/PMCC/284). Ethics approval was also granted by the Tasmanian Ethics Committee (protocol no. H0018312). Site governance was granted at ACT Health, Austin Health, Melbourne Health, NSW Local Area Health Service, PMCC and King Edward Memorial Hospital, Western Australia. Informed consent was obtained from all participants.

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Forrest, L.E., Forbes Shepherd, R., Spelman, T. et al. Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing. Eur J Hum Genet (2026). https://doi.org/10.1038/s41431-025-02010-9

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  • DOI: https://doi.org/10.1038/s41431-025-02010-9

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