Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer

NCT06436248 | Active Not Recruiting

• 2 other identifiers: UPCC 17824IRB: 855461
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 1

Brief Summary

The overall goal of the Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE) study is to better understand how women may incorporate both polygenic risk score (PRS) and novel early detection strategies in their decisions regarding cancer screening and risk reducing surgery. This study will conduct qualitative interviews to better understand women's attitudes regarding polygenic risk score (PRS) and early detection assays.

Conditions

Ovarian Cancer; BRCA Mutation

Outcome Measures

Primary Outcomes (1)

• To assess how women will use information regarding polygenic risk score (PRS) and early detection assays to inform prophylactic surgery decisions through interviews

  The investigators will assess how women will use information regarding polygenic risk score (PRS) and early detection assays to inform prophylactic surgery decisions through semi-structured interviews and thematic content analyses.

  1 year

Eligibility Criteria

• Age: 25 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Target population is women, age 25 or over, with likely pathogenic or pathogenic variants in BRCA1 or BRCA2 and no personal history of ovarian cancer or risk-reducing oophorectomy surgery.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Abramson Cancer Center at Penn Medicine: lead
• Susan G. Komen Breast Cancer Foundation: collaborator
• Memorial Sloan Kettering Cancer Center: collaborator

Study Sites (1)

Abramson Cancer Center

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Ovarian Neoplasms

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Susan Domchek, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 29, 2024
• First Posted: May 31, 2024
• Study Start: July 1, 2024
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2027
• Last Updated: October 22, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)