Homologous recombination deficiency and hemizygosity drive resistance in breast cancer
Nature • • general
Key Points:
- The study analyzed 6,927 breast cancer tumor samples from 5,881 patients, using prospective clinical tumor and normal DNA sequencing between 2014 and 2021, with IRB approval and informed consent.
- Tumor DNA sequencing was performed using the MSK-IMPACT targeted panel, covering 341 to 506 genes, with samples from both primary (50.1%) and metastatic sites (49.8%).
- Germline pathogenic variants were identified using a validated clinical pipeline, excluding variants from clonal hematopoiesis or low-risk CHEK2 variants, with pathogenicity assessed via ACMG guidelines and ClinVar annotations.
- Clinical data, including receptor status and progression events, were rigorously curated from a
