Abstract 5570: Analytical and clinical validation of blood-based NGS panel for detection of genomic alterations in DNA repair pathways

Abstract

Abstract Response to DNA-damaging agents, such as PARP inhibitors (PARPi), is associate with homologous recombination deficiency (HRD). In fact, patients with advanced breast, prostate, and ovarian cancers who carry harmful mutations in BRCA1/2 have benefited greatly from olaparib, niraparib, and rucaparib as reported in multiple clinical trials. However, current available assays either require tumor biopsy which may be of insufficient quantity or unobtainable or only examine very limited genes such as BRCA1, BRCA2, and ATM from patient blood. We recently developed a blood-based NGS panel to accurately detect genomic alterations in 51 genes related to DNA damage and repair. With in-house proprietary ultra-sensitive DeepSeaTM(Deterministic, Efficient, Precise, Sensitive Algorithm) variant detection algorithm, analytical performance was rigorously assessed via serial dilutions of reference materials and also further validated by clinical plasma samples in prostate, ovarian, lung and breast cancer. Key words: cfDNA, DNA damage repair, PARP, BRCA1, BRCA2, liquid biopsy, biomarker Citation Format: Xiaohong Wang, Jianjun Yu. Analytical and clinical validation of blood-based NGS panel for detection of genomic alterations in DNA repair pathways [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 5570.