Investigating genetic mutations linked to cancer risk
Functional profiling of germline SDH variants associated with cancer susceptibility
This study is looking at how certain changes in the SDHA and SDHB genes might raise the chances of getting cancers like paraganglioma and breast cancer, and it aims to help people understand their risks better so they can take steps to prevent these cancers.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Portland VA Medical Center NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-11118656 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific genetic mutations in the SDHA and SDHB genes can increase the risk of developing various cancers, including paraganglioma and breast cancer. By creating human cell models and using advanced techniques to analyze these mutations, the research aims to clarify which variants are harmful and how they contribute to cancer development. This knowledge could lead to better screening and prevention strategies for individuals with these genetic variants.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with known pathogenic SDHA or SDHB mutations or those with a family history of related cancers.
Not a fit: Patients without any known SDHA or SDHB mutations or those not at risk for the associated cancers may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could enable earlier detection and prevention of cancers associated with SDH mutations, improving patient outcomes.
How similar studies have performed: Previous research has shown promise in identifying cancer risks associated with genetic mutations, suggesting that this approach could yield valuable insights.
Where this research is happening
Portland, United States
- Portland VA Medical Center — Portland, United States (Active)
Researchers
- Principal investigator: Heinrich, Michael C — Portland VA Medical Center
- Study coordinator: Heinrich, Michael C
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.