"The signatures may improve detection of homologous recombination deficiency, aiding in patient stratification for targeted therapies such as PARP inhibitors."
New Genetic Signatures Identified in Breast Cancer
A study led by Dr Jason Pitt at the Cancer Science Institute of Singapore (CSI Singapore) has identified eight new signatures of DNA copy number gains and/or losses specific to breast cancer. The team analyzed nearly 2,800 genomes from the TCGA and METABRIC databases to systematically profile DNA copy number changes in the disease.
Key Findings
- The eight de novo signatures distinguish genomic effects of BRCA1 and BRCA2 mutations.
- Patients with relatively stable genomes and low macrophage infiltration had better survival outcomes.
- The signatures may improve detection of homologous recombination deficiency, aiding in patient stratification for targeted therapies such as PARP inhibitors.
Tool Released
To facilitate further research, the team launched the CNA Visualizer (https://cnavisualizer.pittlabgenomics.com/home), an open-access web tool that allows scientists to explore cancer genome datasets interactively.
Next Steps
The researchers plan to validate these genetic signatures in clinical settings to assess their reliability in predicting patient responses to targeted therapy. They also aim to study the interplay between genome instability and the tumour microenvironment in influencing long-term clinical outcomes.