Ultra-Deep Sequencing of Plasma-Circulating DNA for the Detection of Tumor- Derived Mutations in Patients with Nonmetastatic Colorectal Cancer.
Huu-Thinh NguyenBac An LuongDuc-Huy TranTrong-Hieu NguyenQuoc Dat NgoLinh Gia Hoang LeQuoc Chuong HoHue-Hanh Thi NguyenCao Minh NguyenVu Uyen TranTruong Vinh Ngoc PhamMinh Triet LeNgoc An Trinh LeTrung Kien LeThanh Luan NguyenHong-Anh Thi PhamHong Thuy LeHong Diep Thi DuongAnh Vu HoangHoang Bac NguyenKiet Truong DinhMinh Duy PhanHoai-Nghia NguyenThanh-Thuy Thi DoHoa GiangRichard L FerreroDiep Tuan TranPublished in: Cancer investigation (2021)
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.
Keyphrases
- early stage
- end stage renal disease
- single cell
- newly diagnosed
- peritoneal dialysis
- prognostic factors
- squamous cell carcinoma
- gene expression
- high resolution
- healthcare
- mesenchymal stem cells
- patient reported outcomes
- case report
- single molecule
- electronic health record
- bone marrow
- ionic liquid
- genome wide
- ultrasound guided
- neoadjuvant chemotherapy