Evaluation of a Liquid Biopsy Protocol using Ultra-Deep Massive Parallel Sequencing for Detecting and Quantifying Circulation Tumor DNA in Colorectal Cancer Patients
Huu Thinh Nguyen, Huu Thinh Nguyen, Duc Huy Tran, Quoc Dat Ngo, Hong-Anh Thi Pham, Thanh-Truong Tran, Vu-Uyen Tran, Truong-Vinh Ngoc Pham, Trung Kien Le, Ngoc-An Trinh Le, Ngoc Mai Nguyen, Binh Thanh Vo, Luan Nguyen, Thien-Chi Van Nguyen, Quynh Tram Nguyen Bui, Huu-Nguyen Nguyen, Huu-Nguyen Nguyen, Bac An Luong, Linh Gia Hoang Le, Duc M, Thanh‐Thuy Thi, Anh Vu Hoang, Kiet Truong Dinh, Minh‐Duy Phan, Le Son Tran, Hoa Giang, Hoai‐Nghia Nguyen, Hoai‐Nghia Nguyen
Abstract
The identification and quantification of actionable mutations are critical for guiding targeted therapy and monitoring drug response in colorectal cancer. Liquid biopsy (LB) based on plasma cell-free DNA analysis has emerged as a noninvasive approach with many clinical advantages over conventional tissue sampling. Here, we developed a LB protocol using ultra-deep massive parallel sequencing and validated its clinical performance for detection and quantification of actionable mutations in three major driver genes (KRAS, NRAS and BRAF). The assay showed a 92% concordance for mutation detection between plasma and paired tissues and great reliability in quantification of variant allele frequency.