Early breast tissue changes in women with BRCA1/2 mutations
Tracking the evolution of breast cancer through single cell analyses of premalignant breast tissues from women at high risk for cancer development
Scientists are using advanced single-cell tests on breast tissue from women with BRCA1 or BRCA2 mutations to find tiny early changes that could lead to cancer.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11158639 on NIH RePORTER |
What this research studies
Researchers will examine breast tissue from women with and without BRCA1/2 mutations using three high-resolution laboratory methods: mass cytometry (CyTOF) to measure many protein markers on individual cells, single-cell RNA sequencing to read each cell's gene activity, and multiplexed imaging (CyCIF) to map where those cells sit in the tissue. They have already profiled tissues from over 30 women and identified distinct cell subpopulations that are more common in BRCA mutation carriers. The team will use surface markers to isolate these cell populations for further study and to build RNA signatures that mark premalignant states. The overall aim is to find early signs of cancer risk that could be used for detection or prevention in high-risk women.
Who could benefit from this research
Good fit: Ideal candidates are women known to carry BRCA1 or BRCA2 mutations who can provide breast tissue samples (for example during prophylactic surgery or clinical biopsy).
Not a fit: People without BRCA1/2 mutations or those with advanced, active breast cancer are unlikely to gain direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to tests that detect pre-cancerous changes earlier and new ways to prevent breast cancer in women with BRCA mutations.
How similar studies have performed: Early work by this team and others has already found distinct cell populations and gene-expression signatures in BRCA mutation carriers, so the approach shows promising preliminary results but is not yet a clinical test.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Brugge, Joan Siefert — Harvard Medical School
- Study coordinator: Brugge, Joan Siefert
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.