Health effects of inherited BAP1 gene changes
Spectrum of clinical phenotype of the BAP1-tumor predisposition syndrome (BAP1-TPDS)
Researchers are mapping how different inherited changes in the BAP1 gene affect cancer risk and health for people and families with BAP1 mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-11136414 on NIH RePORTER |
What this research studies
You would join a project that collects medical records, family history, genetic test results, and sometimes blood or tissue samples from people with inherited BAP1 changes to see what cancers and skin lesions develop. The team will compare the variants seen in patients to large public genetic databases and perform laboratory studies in models to learn which variants disrupt BAP1 function. Their work aims to clarify which BAP1 variants cause disease so doctors can give clearer genetic test reports and screening advice. You may be asked to share records, family information, and provide a sample by mail or at a clinical site.
Who could benefit from this research
Good fit: People with a known germline BAP1 mutation or a personal/family history of uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, or suspicious BAP1-related skin lesions.
Not a fit: People without BAP1 variants or with cancers unrelated to BAP1 are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: Could give people clearer genetic test results, more targeted cancer screening recommendations, and better counseling for affected families.
How similar studies have performed: Prior studies have linked BAP1 mutations to several cancers, but variant-specific risks and the full clinical spectrum remain incompletely defined, so this work builds on earlier findings.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Abdel-Rahman, Mohamed H. — Ohio State University
- Study coordinator: Abdel-Rahman, Mohamed H.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.