Validation of genomic and transcriptomic models of homologous recombination deficiency in a real-world pan-cancer cohort.

ABSTRACT:

Background

With the introduction of DNA-damaging therapies into standard of care cancer treatment, there is a growing need for predictive diagnostics assessing homologous recombination deficiency (HRD) status across tumor types. Following the strong clinical evidence for the utility of DNA-sequencing-based HRD testing in ovarian cancer, and growing evidence in breast cancer, we present analytical validation of the Tempus HRD-DNA test. We further developed, validated, and explored the Tempus HRD-RNA model, which uses gene expression data from 16,750 RNA-seq samples to predict HRD status from formalin-fixed paraffin-embedded tumor samples across numerous cancer types.

Methods

Genomic and transcriptomic profiling was performed using next-generation sequencing from Tempus xT, Te

SUBMITTER: Leibowitz BD 

PROVIDER: S-EPMC9148513 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature