Status:
RECRUITING
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
Lead Sponsor:
Mohamed Abdel-Rahman
Conditions:
Uveal Melanoma
Cutaneous Melanoma
Eligibility:
All Genders
Brief Summary
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...
Detailed Description
BAP1 (BRCA1-associated protein-1), is a deubiquitinating enzyme with a ubiquitin carboxy-terminal hydrolase function that has been suggested to be a tumor suppressor gene with a role in cell prolifera...
Eligibility Criteria
Inclusion
- Patients who meet any of the following criteria:
- Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma.
- Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
- Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
- Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
- At risk relatives of a patient with documented BAP1 mutation.
Exclusion
- Study material including consent forms are currently only available in English so non-English speaking subjects are excluding
Key Trial Info
Start Date :
March 3 2015
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2026
Estimated Enrollment :
500 Patients enrolled
Trial Details
Trial ID
NCT04792463
Start Date
March 3 2015
End Date
July 1 2026
Last Update
January 20 2025
Active Locations (1)
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1
The Ohio State University Wexner Medical Center
Columbus, Ohio, United States, 43210