Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- BAP1 Gene Mutation
- Cholangiocarcinoma
- Cutaneous Melanoma
- Hepatocellular Carcinoma
- Meningioma Atypical
- Mesothelioma
- Renal Cell Carcinoma
- Uveal Melanoma
- Type
- Observational
- Design
- Observational Model: Family-BasedTime Perspective: Prospective
Participation Requirements
- Age
- Younger than 125 years
- Gender
- Both males and females
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 proliferation and growth inhibition. Recently germline mutations in BAP1 have been identified by our group an...
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 proliferation and growth inhibition. Recently germline mutations in BAP1 have been identified by our group and others in families with hereditary cancers. However, the clinical spectrum of cancers in patients with germline BAP1 is still not clear. The association of germline BAP1 mutations with increased risks for uveal melanoma (UM), mesothelioma, cutaneous melanoma (CM), renal cell carcinoma (RCC) and BAP1-inactivated melanocytic tumors is fairly well established. However, several other cancers have been reported in these patients and their family members including cholangiocarcinoma, hepatocellular carcinoma, meningioma, basal cell carcinoma and other internal malignancies. Identification of the clinical phenotype of BAP1-TPDS is important for proper counseling and management of patients.
Tracking Information
- NCT #
- NCT04792463
- Collaborators
- Not Provided
- Investigators
- Principal Investigator: Mohamed H Abdel-Rahman, MD, PhD Ohio State University