Polygenic Risk Scores and Early Detection for Ovarian Cancer in BRCA1/2 Carriers
Official title: Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer
Run by Abramson Cancer Center at Penn Medicine · NCT06436248 · Data updated 2026-11-12
This study tests how women with BRCA1/2 mutations feel about using polygenic risk scores and early-detection tests to guide cancer screening and risk-reducing decisions.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 25 Years and up |
| Sex | Women only |
| Enrollment | 24 (estimated) |
| Sponsor | Abramson Cancer Center at Penn Medicine Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Status | Recruiting |
| Started | July 1, 2024 |
| Main results expected | October 31, 2027 |
| Study ends | October 31, 2028 |
| Registry record updated | November 4, 2026 |
| Trial ID | NCT06436248 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal participants are English-speaking women aged 25 or older with a confirmed BRCA1/2 pathogenic variant who have not undergone risk-reducing oophorectomy.
✕Probably not a fit
People without BRCA1/2 mutations, those who have had oophorectomy, or those unwilling to participate in interviews may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study uses qualitative interviews to explore English-speaking women with BRCA1/2 pathogenic variants who have not had risk-reducing salpingo-oophorectomy. Researchers will discuss test characteristics like sensitivity and specificity, and how PRS and early-detection results might influence prevention choices. Interviews will be conducted via Zoom, audio-recorded, and transcribed for thematic analysis to identify willingness, concerns, and perceived ambiguity. Findings will inform the development of hypothetical scenarios for future evaluation in a subsequent study.
Why it matters
Potential benefit: If successful, the study could clarify patient preferences and concerns to shape future risk assessment tools and decision-making aids.
How similar studies have gone: Qualitative work in this area has helped shape understanding of patient perspectives on genetic risk and screening preferences, but this specific combination with PRS and multi-cancer early detection is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Female, age 25 or older (given that women under this age are not generally recommended to receive BRCA1/2 genetic testing) * Completed full sequence or targeted genetic testing with a clinically confirmed BRCA1 or BRCA2 deleterious mutation identified. * English-fluent; the surveys and interviews were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys. Exclusion Criteria: * Previous receipt of any prophylactic oophorectomy * Personal history of ovarian cancer * Major psychiatric illness or cognitive impairment that in the judgment of the study investigators would preclude study participation. * Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff.
Where it's running
-
Abramson Cancer Center
Philadelphia, Pennsylvania, United States Recruiting
Study contacts
- Principal investigator: Susan Domchek, MD — University of Pennsylvania
- Study coordinator: Jamie Brower, MS
- Email: jabrower@pennmedicine.upenn.edu
- Phone: 215-662-7245
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.