icnv_a_2017951_sm0660.pdf (341.85 kB)
Ultra-Deep Sequencing of Plasma-Circulating DNA for the Detection of Tumor- Derived Mutations in Patients with Nonmetastatic Colorectal Cancer
Version 2 2022-03-15, 09:00
Version 1 2021-12-22, 09:00
journal contribution
posted on 2022-03-15, 09:00 authored by 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, Ngoc An Trinh Le, Trung Kien Le, Thanh Luan Nguyen, Hong-Anh Thi Pham, Hong Thuy Le, Hong Diep Thi Duong, Anh Vu Hoang, Hoang Bac Nguyen, Kiet Truong Dinh, Minh-Duy Phan, Hoai-Nghia Nguyen, Thanh-Thuy Thi Do, Hoa Giang, Le Son Tran, Diep Tuan TranIdentification 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 potential 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.
