How BRCA2 problems lead to DNA damage and higher cancer risk
Official title: Mechanisms Underlying Replication Stress And Genome Instability Upon BRCA2 Deficiency
Funded at University of Massachusetts Boston · NIH-11158641 · Data updated 2026-11-12
This project looks at how BRCA2 mutations cause DNA damage in cells from people with BRCA2 mutations to find early changes that can lead to breast and ovarian cancer.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Massachusetts Boston NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2022 |
| Project end | August 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $712,077 |
| NIH project number | 4R01CA273696-04 |
| Project ID | NIH-11158641 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people with known harmful BRCA2 mutations or strong family histories who can provide tissue samples or participate in molecular research.
✕Less likely to help
People without BRCA2 mutations or those seeking an immediate change in clinical treatment are unlikely to benefit directly from this basic research.
What this research studies
Researchers will analyze cells and tissues with BRCA2 deficiency, including patient-derived samples, to track accumulation of single-stranded DNA, abasic sites, and uracil that mark genome damage. They will examine defects in nucleotide excision repair and test whether APOBEC/AID family enzymes contribute to these DNA lesions. The team will use molecular assays, cell-based experiments, and comparisons between normal and BRCA2-mutant tissues to pinpoint the earliest molecular steps toward tumor formation. Results are intended to reveal targets for early prevention and biomarkers that could help BRCA2 carriers.
Why it matters
Potential benefit: If successful, this work could reveal early warning signs and new prevention targets to lower cancer risk for people with BRCA2 mutations.
How similar studies have gone: Prior laboratory work has shown DNA damage and APOBEC activity in cancers, but linking these processes to the earliest changes in BRCA2 mutation carriers is a newer and less-tested area.
Where this research is happening
-
University of Massachusetts Boston
Boston, United States Active
Researchers
- Principal investigator: Pathania, Shailja — University of Massachusetts Boston
- Study coordinator: Pathania, Shailja
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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.