Jorge Sergio Reis-Filho

This study identifies APOBEC3 mutagenesis as a common driver of therapy resistance in breast cancer, associated with poorer clinical outcomes.

This study demonstrates that RNA transcripts can serve as templates for double-strand break repair in human cells, identifying DNA polymerase-zeta as a key enzyme and revealing genomic scars associated with this process.

This paper develops a multimodal transformer model using H&E images and text reports to predict recurrence scores in hormone receptor-positive breast cancer, achieving high accuracy and generalizability.

The paper shows that Mre11 deficiency leads to an ISG signature and chromatin changes, which are reversed by IFI205 ablation, promoting oncogene-induced breast cancer.

The paper identifies how germline and somatic mutations interact to cause resistance to CDK4/6 inhibitors in breast cancer and proposes a sequential treatment strategy using PARP inhibitors.

This study uses attention-based multiple instance learning to predict HRD status from H&E images across ten tumor types, achieving moderate to high AUROC values.

The paper identifies three novel complex structural variation patterns in cancer genomes using genome graph analysis across 2,833 tumor WGS.

This study evaluates the reliability of whole-exome sequencing in detecting intratumor genetic heterogeneity, finding that technical noise accounts for a significant proportion of apparent genetic differences.