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
591 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.
CONDITIONS
Official Title
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Personal history of one BAP1-related cancer plus family history of at least two first- or second-degree relatives with BAP1-related cancers
- Personal history of at least two BAP1-related cancers
- Documented BAP1 pathogenic or likely pathogenic variant, affected or unaffected
- Cancer patient with a BAP1 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 individuals (study materials and consent forms only available in English)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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
CONTACT
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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