AUTHOR=Tran Le Son , Nguyen Quynh-Tho Thi , Nguyen Chu Van , Tran Vu-Uyen , Nguyen Thai-Hoa Thi , Le Ha Thu , Nguyen Mai-Lan Thi , Le Vu Thuong , Pham Lam-Son , Vo Binh Thanh , Dang Anh-Thu Huynh , Nguyen Luan Thanh , Nguyen Thien-Chi Van , Pham Hong-Anh Thi , Tran Thanh-Truong , Nguyen Long Hung , Nguyen Thanh-Thanh Thi , Nguyen Kim-Huong Thi , Vu Yen-Vi , Nguyen Nguyen Huu , Bui Vinh-Quang , Bui Hai-Ha , Do Thanh-Thuy Thi , Lam Nien Vinh , Truong Dinh Kiet , Phan Minh-Duy , Nguyen Hoai-Nghia , Giang Hoa TITLE=Ultra-Deep Massive Parallel Sequencing of Plasma Cell-Free DNA Enables Large-Scale Profiling of Driver Mutations in Vietnamese Patients With Advanced Non-Small Cell Lung Cancer JOURNAL=Frontiers in Oncology VOLUME=10 YEAR=2020 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.01351 DOI=10.3389/fonc.2020.01351 ISSN=2234-943X ABSTRACT=

Population-specific profiling of mutations in cancer genes is of critical importance for the understanding of cancer biology in general as well as the establishment of optimal diagnostics and treatment guidelines for that particular population. Although genetic analysis of tumor tissue is often used to detect mutations in cancer genes, the invasiveness and limited accessibility hinders its application in large-scale population studies. Here, we used ultra-deep massive parallel sequencing of plasma cell free DNA (cfDNA) to identify the mutation profiles of 265 Vietnamese patients with advanced non-small cell lung cancer (NSCLC). Compared to a cohort of advanced NSCLC patients characterized by sequencing of tissue samples, cfDNA genomic testing, despite lower mutation detection rates, was able to detect major mutations in tested driver genes that reflected similar mutation composition and distribution pattern, as well as major associations between mutation prevalence and clinical features. In conclusion, ultra-deep sequencing of plasma cfDNA represents an alternative approach for population-wide genetic profiling of cancer genes where recruitment of patients is limited to the accessibility of tumor tissue site.