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<p>The experiences and outcomes for women identified with a <i>BRCA1/2</i> pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of <i>BRCA1/2</i> status on women’s reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18–40 years who had predictive <i>BRCA1/2</i> 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 <i>BRCA1/2</i> PV; 38.0% without a <i>BRCA1/2</i> PV). More women with a <i>BRCA1/2</i> PV had children compared to those who did not (49.0% <i>c.f</i>., 40.5%; <i>p</i> = 0.045). <i>BRCA1/2</i> 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 <i>BRCA1/2</i> 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 <i>BRCA1/2</i> PV, after adjustment for confounders. Receiving a positive predictive <i>BRCA1/2</i> result is associated with an increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive <i>BRCA1/2</i> result. These findings contribute to the evidence base to inform long-term follow-up for women after predictive <i>BRCA1/2</i> testing.</p>

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

  • 期刊论文

  • 发表日期：

    2026年1月3日

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  • 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

摘要

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.