Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.

ABSTRACT:

Background

Homologous recombination deficiency (HRD) impacts cancer treatment strategies, particularly effective utilization of PARP inhibitors. However, the variability of different HRD assays has hampered the selection of oncology patients who may benefit from these therapies. Our study aims to use the whole genome landscape to better define HRD in a pan-cancer cohort.

Methods

We employed a whole genome sequencing HRD classifier that includes genome-wide signatures associated with HRD to analyze 580 tumor/normal paired samples. The HRD phenotype was correlated with genomic variants in BRCA1/2 and other homologous recombination repair genes.

Results

In this paper we show that the HRD phenotype is identified in various cancers including breast (21%), pancreaticobiliar

SUBMITTER: Al Assaad M 

PROVIDER: S-EPMC12796271 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature