Homologous recombination deficiency (HRD) testing on cell-free tumor DNA from peritoneal fluid.

ABSTRACT:

Background

Knowing the homologous recombination deficiency (HRD) status in advanced epithelial ovarian cancer (EOC) is vital for patient management. HRD is determined by BRCA1/BRCA2 pathogenic variants or genomic instability. However, tumor DNA analysis is inconclusive in 15-19% of cases. Peritoneal fluid, available in > 95% of advanced EOC cases, could serve as an alternative source of cell-free tumor DNA (cftDNA) for HRD testing. Limited data show the feasibility of cancer panel gene testing on ascites cfDNA but no study, to date, has investigated HRD testing.

Methods

We collected ascites/peritoneal washings from 53 EOC patients (19 from retrospective cohort and 34 from prospective cohort) and performed a Cancer Gene Panel (CGP) using NGS for TP53/HR genes and shallow Whol

SUBMITTER: Roussel-Simonin C 

PROVIDER: S-EPMC10626673 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature