Evaluation of Homologous Repair Deficiency Status in Ovarian Carcinoma using In House Next Generation Sequencing Panels
Temple University Hospital evaluated Pillar's oncoReveal® HRDv2 assay together with the oncoReveal® methylation assay for assessing homologous recombination deficiency (HRD) in ovarian carcinoma, the marker predicting PARP inhibitor benefit in tubo-ovarian high-grade serous carcinoma. Thirty-one retrospective FFPE ovarian specimens — 20 high-grade serous, 4 clear cell, 3 mucinous, 3 endometrioid and 1 mixed — were microdissected and run for SNVs, indels and exon-level copy number variants across 33 genes on the Illumina MiSeq, plus BRCA1, BRCA2, RAD51C and XRCC3 promoter methylation, with PiVAT® analysis. Pathogenic HRD mutations appeared in 28 of 31 specimens (90%), and methylation identified further HRD-positive cases.
