Actively Recruiting
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
Led by Mohamed Abdel-Rahman · Updated on 2026-03-09
500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research focuses on individuals who have a hereditary risk for various cancers due to mutations in the BAP1 gene. The study aims to better understand the clinical features and frequency of BAP1-related cancer syndrome, which includes cancers such as uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, and others. By characterizing those at high risk, the study hopes to improve screening, prevention, and treatment strategies for patients and their families with this hereditary condition. Participants include those with personal or family histories of cancers linked to BAP1 mutations, as well as individuals with documented BAP1 gene variants. The study is observational and does not involve treatment but collects detailed clinical and genetic information over time. The research will monitor the prevalence of BAP1 variants, clinical tumor features, and age of onset, while also assessing environmental and genetic factors that may influence cancer risk. Throughout the study, participants will provide medical history and family cancer information, complete questionnaires on environmental risks, and undergo genetic testing. Researchers will analyze tumor pathology and genetic changes to understand disease progression and treatment outcomes. The study spans multiple years, with primary outcomes measured over five years and secondary outcomes over ten years, aiming to provide comprehensive data to guide future management of BAP1 hereditary cancer syndrome.
CONDITIONS
Brief Title
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with hereditary BAP1 cancers such as uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, cholangiocarcinoma, meningioma, or hepatocellular carcinoma
- Personal history of at least two cancers reported in hereditary BAP1 cancer predisposition syndrome
- Any individual (affected or unaffected) with a documented pathogenic or likely pathogenic BAP1 variant
- Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance
- At-risk relatives of a patient with a documented BAP1 mutation
You will not qualify if you...
- Non-English speaking subjects due to study materials and consent forms being available only in English
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 10 years
Participants who have personal or family history suggestive of hereditary BAP1 are observed to identify clinical phenotypes and cancer risks.
Periodic visits depending on clinical findings
Trial Site Locations
Total: 1 location
1
The Ohio State University Wexner Medical Center
Columbus, Ohio, United States, 43210
Actively Recruiting
Research Team
M
Mohamed H Abdel-Rahman, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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