Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants

BRCA 1 Gene Mutation, BRCA 2 Gene Mutation, Early Detection of Ovarian Cancer, Ovarian Neoplasms, Serous Tubal Intraepithelial Carcinoma

Ovarian cancer, Liquid biopsy, Galleri, Multi-cancer early detection, BRCA1, BRCA2, Hereditary breast and ovarian cancer syndrome, Serous tubal intraepithelial carcinoma (STIC), Risk-reducing salpingo-oophorectomy, Early cancer detection, Hereditary cancer, Cancer screening, Implementation science

The goal of this clinical study is to evaluate the feasibility and acceptability of the Galleri multi-cancer early detection blood test in people with BRCA1 or BRCA2 gene changes who are at high risk for ovarian cancer. The study will also explore how well the test detects ovarian cancer or related precancerous conditions. The main questions it aims to answer are: * Is it feasible to incorporate the Galleri blood test into the care of people at high \* risk for ovarian cancer? * Is the Galleri blood test acceptable to participants? * How well does the Galleri blood test identify ovarian cancer or related precancerous conditions? Participants will: * Receive the Galleri blood test. * Complete questionnaires about their experience with the test. * Some participants will also complete an interview about their experiences and preferences. * Continue with their planned standard medical care, including surgery or follow-up visits, as appropriate.

This is a prospective, multi-center, mixed-methods feasibility study evaluating the integration of the Galleri multi-cancer early detection (MCED) liquid biopsy into hereditary cancer risk management for individuals at increased risk of epithelial ovarian cancer due to pathogenic or likely pathogenic BRCA1 or BRCA2 variants. The study also includes individuals with a prior diagnosis of serous tubal intraepithelial carcinoma (STIC), a precursor lesion associated with an increased risk of subsequent ovarian, fallopian tube, or primary peritoneal cancer. The primary objective is to evaluate the feasibility of incorporating liquid biopsy testing into clinical care. Secondary objectives include evaluating participant acceptability, identifying barriers and facilitators to implementation, and generating preliminary data to inform a future large-scale validation study. Exploratory analyses will evaluate the relationship between liquid biopsy results and surgical pathology findings, including estimates of sensitivity, specificity, positive predictive value, negative predictive value, and concordance when feasible. The study consists of two cohorts: Cohort A (Surgical Feasibility Cohort): Approximately 50 adults with BRCA1 or BRCA2 pathogenic variants who are undergoing planned risk-reducing gynecologic surgery at Weill Cornell Medicine or MD Anderson Cancer Center will receive the Galleri blood test on the day of surgery. Liquid biopsy results will be compared with surgical pathology findings to evaluate the feasibility of integrating blood-based cancer detection into hereditary cancer prevention. Participants will remain on their planned standard-of-care clinical pathway, and no additional surgical procedures will be performed for research purposes. Cohort B (Exploratory STIC Cohort): Up to 20 adults with a previous diagnosis of STIC will undergo baseline and annual Galleri blood testing for up to 10 years. The study will evaluate the feasibility and acceptability of long-term blood-based surveillance and descriptively characterize longitudinal liquid biopsy findings and clinical outcomes. A subset of approximately 20-30 participants from Cohort A will complete semi-structured interviews or focus groups within six months of surgery. Interviews will be guided by Levesque's Healthcare Access Framework to explore participant perceptions, trust, barriers, facilitators, and implementation considerations related to liquid biopsy testing. Findings will help inform equitable implementation of future ovarian cancer early detection strategies. The Galleri test used in this study is an investigational in vitro diagnostic device performed in a CLIA-certified laboratory. It is not approved by the U.S. Food and Drug Administration for ovarian cancer screening or this specific indication and is being evaluated for research purposes only. Results from this feasibility study are intended to support the development of a future multi-site validation study evaluating the diagnostic performance of liquid biopsy for early detection of epithelial ovarian cancer in individuals with hereditary cancer susceptibility.

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