Understanding the BAP1-tumor predisposition syndrome and its cancer risks
Spectrum of clinical phenotype of the BAP1-tumor predisposition syndrome (BAP1-TPDS)
This study is looking at a genetic condition called BAP1-tumor predisposition syndrome, which can raise the chances of getting certain cancers, and it's for families affected by this condition to help understand how different gene changes might lead to cancer, so they can get better care and support.
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-10894069 on NIH RePORTER |
What this research studies
This research investigates the BAP1-tumor predisposition syndrome (BAP1-TPDS), which is linked to genetic mutations that increase the risk of several types of cancer, including uveal melanoma and mesothelioma. The study aims to characterize the clinical phenotypes associated with different BAP1 gene variants, helping to identify which mutations may lead to cancer. By analyzing genetic data from affected families, researchers hope to improve understanding of how these mutations function and their implications for patient care. This could lead to better screening and management strategies for individuals at risk.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of BAP1-TPDS or those who have been diagnosed with cancers associated with BAP1 mutations.
Not a fit: Patients without a family history of BAP1-TPDS or those not diagnosed with related cancers may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved risk assessment and personalized management strategies for patients with BAP1-TPDS.
How similar studies have performed: Previous research has shown promising results in understanding genetic predispositions to cancer, suggesting that this approach could yield valuable insights.
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.