How a p53 gene change affects inherited cancer risk
The genetics of tumor suppression by p53
Researchers are looking at a specific change in the p53 gene found in multiple cancer-prone families to understand how it weakens the body’s tumor defenses for people with inherited risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Wistar Institute NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11304585 on NIH RePORTER |
What this research studies
From a patient point of view, this project focuses on a particular p53 gene change (called G334R) seen in families with early and multiple cancers, including childhood adrenal tumors. Scientists will compare tumor samples from affected family members with lab tests in cells and mice to see how the altered p53 protein works differently. They will measure whether the mutant protein can form its normal complexes, turn on important target genes, and whether tumors lose the normal copy of p53. The team aims to connect these lab findings back to the cancers seen in these families so doctors can better understand why some relatives develop tumors.
Who could benefit from this research
Good fit: Ideal candidates are people from families with multiple early-onset cancers or relatives known to carry or suspected to carry a TP53/G334R variant, and patients with pediatric adrenal tumors linked to inherited TP53 changes.
Not a fit: People whose cancers are unrelated to TP53 mutations or who do not have a family history of inherited cancer risk are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve genetic counseling and screening plans for families carrying this p53 change and point to more personalized monitoring or treatment strategies.
How similar studies have performed: p53 has been extensively studied and past research has clarified how many TP53 mutations cause cancer, but this specific G334R variant appears novel and is less well understood.
Where this research is happening
Philadelphia, United States
- Wistar Institute — Philadelphia, United States (Active)
Researchers
- Principal investigator: Murphy, Maureen E. — Wistar Institute
- Study coordinator: Murphy, Maureen E.
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.