2 posts tagged with "Paper"

In a comprehensive analysis of over 2,700 breast cancer genomes , we establish an analytical framework that utilizes copy number signatures to decode mechanisms of genome instability. We demonstrate that these distinct signatures can uncover underlying biological processes—such as differentiating BRCA1 from BRCA2 deficiency and linking extrachromosomal DNA to chromothripsis—while revealing that patients with copy number 'quiet' genomes and low macrophage infiltration exhibit remarkably better survival outcomes.

In joint efforts with the Venkitaraman Lab at CSI, we demonstrate that exposure to methylglyoxal, a byproduct of glycolysis, inhibits BRCA2 activity leading to transient bursts of mutagenesis in human cells.