Ultra-Deep Sequencing of Plasma-Circulating DNA for the Detection of Tumor- Derived Mutations in Patients with Nonmetastatic Colorectal Cancer. (21st April 2022)

• Record Type: Journal Article
• Authors: Nguyen, Huu-Thinh; Luong, Bac An; Tran, Duc-Huy; Nguyen, Trong-Hieu; Ngo, Quoc Dat; Le, Linh Gia Hoang; Ho, Quoc Chuong; Nguyen, Hue-Hanh Thi; Nguyen, Cao Minh; Tran, Vu Uyen; Pham, Truong Vinh Ngoc; Le, Minh Triet; Le, Ngoc An Trinh; Le, Trung Kien; Nguyen, Thanh Luan; Pham, Hong-Anh Thi; Le, Hong Thuy; Duong, Hong Diep Thi; Hoang, Anh Vu; Nguyen, Hoang Bac; Truong Dinh, Kiet; Phan, Minh-Duy; Nguyen, Hoai-Nghia; Do, Thanh-Thuy Thi; Giang, Hoa; Tran, Le Son; Tran, Diep Tuan
• Is Part Of: Cancer investigation. Volume 40:Number 4(2022)
• Page Start: 354
• Page End: 365
• Publication Date: 2022-04-21
• Subjects: Cell-free DNA -- circulating tumor DNA -- early detection -- colorectal cancer -- tumor-specific mutations; Cancer -- Periodicals; Oncology -- Periodicals; Medical Oncology -- Periodicals; Neoplasms -- Periodicals; 616.994
• DOI: 10.1080/07357907.2021.2017951
• Languages: English
• ISSNs: 0735-7907

Abstract

Abstract: 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 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.