Investigating genetic variants linked to certain tumors
A genotype-phenotype study of germline succinate dehydrogenase pathogenic variants
This study is looking at how certain genetic changes in the SDHx genes might lead to neuroendocrine tumors like pheochromocytomas and paragangliomas, with the goal of helping patients understand their genetic risks and find better treatment options.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10904019 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific genetic changes in the succinate dehydrogenase (SDHx) genes contribute to the development of neuroendocrine tumors, such as pheochromocytomas and paragangliomas. The project involves advanced bioinformatics and genomics techniques to analyze the relationship between these genetic variants and tumor behavior. By studying the DNA damage repair mechanisms associated with these variants, the research aims to uncover critical insights into cancer predisposition and progression. Patients may benefit from improved understanding of their genetic risks and potential targeted therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of neuroendocrine tumors or those diagnosed with pheochromocytomas or paragangliomas.
Not a fit: Patients without a genetic predisposition to neuroendocrine tumors or those not affected by SDHx variants may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better risk assessment and personalized treatment options for patients with neuroendocrine tumors linked to SDHx variants.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to cancer, suggesting that this approach could yield valuable insights.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Wachtel, Heather — University of Pennsylvania
- Study coordinator: Wachtel, Heather
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.