How the XAF1 gene affects p53-driven cell death and tumor prevention
XAF1 IN P53 SIGNALING, APOPTOSIS AND TUMOR SUPPRESSION
This project looks at whether a damaged XAF1 gene raises cancer risk for people who carry the TP53-R337H mutation, especially childhood adrenal tumors.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project ID | NIH-11285232 on NIH RePORTER |
What this research studies
If you or your child carry the TP53-R337H mutation, researchers want to know why some people get cancer and others do not. They found a linked change in the XAF1 gene (E134*) that may weaken a p53-driven cell-death pathway, and they will recreate these mutations in mice and in cells to observe effects on tumor formation. Lab experiments will measure p53 signaling and apoptosis and compare animals and tissues with one or both mutations. The goal is to explain differences in cancer risk among carriers and guide future screening and prevention options.
Who could benefit from this research
Good fit: Ideal candidates would be people or family members known to carry the TP53-R337H mutation—particularly newborns and children from the affected regions—or patients with adrenocortical carcinoma or related sarcomas.
Not a fit: People without TP53 or XAF1 mutations or those with cancers unrelated to these pathways are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could help identify which TP53-R337H carriers face higher cancer risk and inform more targeted screening or prevention for those individuals.
How similar studies have performed: Previous research linked TP53-R337H to pediatric adrenal cancer and suggested XAF1 supports p53-mediated apoptosis, but testing how the two mutations act together in living animals is a new and less-tested step.
Where this research is happening
Memphis, United States
- St. Jude Children's Research Hospital — Memphis, United States (Active)
Researchers
- Principal investigator: Zambetti, Gerard Paul — St. Jude Children's Research Hospital
- Study coordinator: Zambetti, Gerard Paul
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.