Combination of <i>BRCA</i> deep targeted sequencing and shallow whole genome sequencing to detect homologous recombination deficiency in ovarian cancer.

ABSTRACT:

Backgrounds

Assessing homologous recombination deficiency (HRD) has been recommended by clinical guidelines for patients with ovarian cancer (OC) as it predicts sensitivity to poly (ADP-ribose) polymerase inhibitors (PARPi). However, HRD testing is complex and either inaccessible or unaffordable for majority of OC patients in developing countries. Consequently, the prevalence of HRD in OC remains unknown.

Methods

We examined HRD status of 77 Vietnamese patients with OC using a new laboratory-developed test (HRD Insight, Gene Solutions). Tumor DNA was extracted from FFPE samples, followed by next-generation sequencing to detect deleterious or suspected deleterious variants in BRCA1/2 genes. Shallow whole genome sequencing was performed to determine the whole Gen

SUBMITTER: Nguyen Hoang TP 

PROVIDER: S-EPMC12434766 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature