Ultra-Deep Sequencing of Plasma-Circulating DNA for the Detection of Tumor- Derived Mutations in Patients with Nonmetastatic Colorectal Cancer

Huu-Thinh Nguyen, Bac An Luong, Duc-Huy Tran, Trong-Hieu Nguyen, Quoc Dat Ngo, Linh Gia Hoang Le, Quoc Chuong Ho, Hue-Hanh Thi Nguyen, Cao Minh Nguyen, Vu Uyen Tran, Truong Vinh Ngoc Pham, Minh Triet Le (+15 others)
2022 figshare.com  
Identification of tumor-derived mutation (TDM) in liquid biopsies (LB), especially in early-stage patients, faces several challenges, including low variant-allele frequencies, interference by white blood cell (WBC)-derived mutations (WDM), benign somatic mutations and tumor heterogeneity. Here, we addressed the above-mentioned challenges in a cohort of 50 nonmetastatic colorectal cancer patients, via a workflow involving parallel sequencing of paired WBC- and tumor-gDNA. After excluding
more » ... l false positive mutations, we detected at least one TDM in LB of 56% (28/50) of patients, with the majority showing low-patient coverage, except for one TDM mapped to KMT2D that recurred in 30% (15/30) of patients.
doi:10.6084/m9.figshare.17371905.v2 fatcat:kqr32lpgi5gyplqfolyl3gqowu