CCDC6 Immunostaining in Conjunction with the Rad51 HRD Assay May Expand PARPi Treatment Eligibility in Patients with HGSOC.

ABSTRACT: Patients with high-grade serous ovarian carcinoma (HGSOC) with BRCA1/2 mutations show homologous recombination (HR) deficiency (HRD) and poly (ADP-ribose) polymerase inhibitors (PARPi) sensitivity. Notably, HRD and PARPi response can occur without BRCA mutations, suggesting that other factors are involved. Loss of coiled-coil domain containing 6 (CCDC6) function can lead to HRD and PARPi sensitivity in HGSOC cells, making CCDC6 a potential therapeutic target and biomarker. Three CCDC6 missense mutations in HGSOC prompted an investigation into their impact on HRD. Analyzing CCDC6 expression, localization, and HRD data in the MITO16A trial aims to clarify the CCDC6-HRD relationship in a large cohort. The biochemical and morphologic effects of CCDC6 mutants on the native protein were examined

SUBMITTER: Criscuolo D 

PROVIDER: S-EPMC12833555 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature