Abstract 578: Comparative analysis of cell free DNA with whole-exome sequencing (cfWES) and application to personalized minimal residual disease (MRD) monitoring

Abstract

Liquid biopsy has become increasingly important in cancer diagnosis, personalized medicine, and disease progression monitoring. Conventional liquid biopsy relies on cancer gene panels which often contain fewer than 500 genes. Despite the revolutionary impact it has brought to the cancer research and cancer patient care, gene panels often miss many key mutations involved in cancer development and drug response. To fully capture the genetic variations embedded in cfDNA, we have developed Predicine-cfWES assay, which expands the features of our existing 152-gene PredicineCARE and 600-gene PredicineATLAS NGS panel with additional coverage of coding regions of the entire human genome. With 2500 x sequencing depth, Predicine-cfWES assay detects common cancer variants at sensitivity of 1% allele frequency and precisely measures copy number variations, such as loss of tumor suppressor genes (PTEN, BRCA2, p53) and gain of oncogenic driver genes (AR, Myc, ERBB2). Variants detected by Predicine-cfWES assay was confirmed by PredicineCARE panel based NGS assay and further used in tumor-agnostic personalized MRD assay. In conclusion, we have developed a comprehensive liquid biopsy solution to profile cfDNA with broad coverage of ~20,000 genes in the whole exome and higher sensitivity in a focused set of clinically actionable cancer variants for more personalized MRD monitoring in cancer patients. Citation Format: Amy Xiaohong Wang, Zhixin Zhao, Chao Dai, Kemin Zhou, Shidong Jia, Pan Du, Shujun Luo. Comparative analysis of cell free DNA with whole-exome sequencing (cfWES) and application to personalized minimal residual disease (MRD) monitoring [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 578.