Finding mutation 'fingerprints' in tumors to guide treatment
Mutational signature analysis: methods and applications to the clinic
This project builds better computer tools to read patterns of DNA changes in tumors so patients can be matched to treatments based on their tumor's molecular fingerprints.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11305288 on NIH RePORTER |
What this research studies
You would benefit from improved computer tools that can read 'mutational signatures'—distinct patterns of DNA changes—in tumor tests, even when only a small gene panel was used. The team will develop methods that combine point-mutation patterns with copy-number and structural change data to detect signs like homologous recombination deficiency, mismatch repair problems, replication stress, or APOBEC activity. They'll apply these methods to data from real clinical patient cohorts to identify biomarkers that help sort patients for treatments such as PARP inhibitors or immunotherapy. The work focuses on making these tests reliable and sensitive when only the limited data from routine clinical sequencing are available.
Who could benefit from this research
Good fit: Ideal candidates are cancer patients whose tumors have been sequenced (even on small clinical gene panels) or who receive care at participating hospitals and can provide access to their tumor data.
Not a fit: Patients without available tumor sequencing data, or whose cancers are driven mainly by non-genetic factors, are less likely to benefit directly from these methods in the near term.
Why it matters
Potential benefit: If successful, this could help doctors identify DNA-repair defects or other tumor features from routine sequencing and better match patients to targeted therapies or immunotherapy.
How similar studies have performed: Previous work has shown mutational signatures can reveal homologous recombination and mismatch repair defects linked to treatment response, but reliably detecting these signals from small clinical gene panels is a newer and still-developing area.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Park, Peter J — Harvard Medical School
- Study coordinator: Park, Peter J
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.