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
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...
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2020-08-01
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doaj-d3d7f4e6639040938c07f6110d6c1ba22020-11-25T03:23:32ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2020-08-011010.3389/fonc.2020.01351546441Ultra-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 CancerLe Son Tran0Quynh-Tho Thi Nguyen1Chu Van Nguyen2Vu-Uyen Tran3Thai-Hoa Thi Nguyen4Ha Thu Le5Mai-Lan Thi Nguyen6Vu Thuong Le7Lam-Son Pham8Binh Thanh Vo9Anh-Thu Huynh Dang10Luan Thanh Nguyen11Thien-Chi Van Nguyen12Hong-Anh Thi Pham13Thanh-Truong Tran14Long Hung Nguyen15Thanh-Thanh Thi Nguyen16Kim-Huong Thi Nguyen17Yen-Vi Vu18Nguyen Huu Nguyen19Vinh-Quang Bui20Hai-Ha Bui21Thanh-Thuy Thi Do22Nien Vinh Lam23Kiet Truong Dinh24Minh-Duy Phan25Hoai-Nghia Nguyen26Hoa Giang27Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, VietnamVietnam National Cancer Hospital, Hanoi, VietnamGene Solutions, Ho Chi Minh City, VietnamVietnam National Cancer Hospital, Hanoi, VietnamHa Noi Oncology Hospital, Hanoi, VietnamHa Noi Oncology Hospital, Hanoi, VietnamCho Ray Hospital, Ho Chi Minh City, VietnamVietnam National Cancer Hospital, Hanoi, VietnamGene Solutions, Ho Chi Minh City, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamHa Noi Oncology Hospital, Hanoi, VietnamHT Genetics, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamGene Solutions, Ho Chi Minh City, VietnamPopulation-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.https://www.frontiersin.org/article/10.3389/fonc.2020.01351/fullliquid biopsycirculating tumor DNAnon-small cell lung canceractionable mutationsultra-deep sequencingtissue biopsy |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Le Son Tran Quynh-Tho Thi Nguyen Chu Van Nguyen Vu-Uyen Tran Thai-Hoa Thi Nguyen Ha Thu Le Mai-Lan Thi Nguyen Vu Thuong Le Lam-Son Pham Binh Thanh Vo Anh-Thu Huynh Dang Luan Thanh Nguyen Thien-Chi Van Nguyen Hong-Anh Thi Pham Thanh-Truong Tran Long Hung Nguyen Thanh-Thanh Thi Nguyen Kim-Huong Thi Nguyen Yen-Vi Vu Nguyen Huu Nguyen Vinh-Quang Bui Hai-Ha Bui Thanh-Thuy Thi Do Nien Vinh Lam Kiet Truong Dinh Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang |
spellingShingle |
Le Son Tran Quynh-Tho Thi Nguyen Chu Van Nguyen Vu-Uyen Tran Thai-Hoa Thi Nguyen Ha Thu Le Mai-Lan Thi Nguyen Vu Thuong Le Lam-Son Pham Binh Thanh Vo Anh-Thu Huynh Dang Luan Thanh Nguyen Thien-Chi Van Nguyen Hong-Anh Thi Pham Thanh-Truong Tran Long Hung Nguyen Thanh-Thanh Thi Nguyen Kim-Huong Thi Nguyen Yen-Vi Vu Nguyen Huu Nguyen Vinh-Quang Bui Hai-Ha Bui Thanh-Thuy Thi Do Nien Vinh Lam Kiet Truong Dinh Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang 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 Frontiers in Oncology liquid biopsy circulating tumor DNA non-small cell lung cancer actionable mutations ultra-deep sequencing tissue biopsy |
author_facet |
Le Son Tran Quynh-Tho Thi Nguyen Chu Van Nguyen Vu-Uyen Tran Thai-Hoa Thi Nguyen Ha Thu Le Mai-Lan Thi Nguyen Vu Thuong Le Lam-Son Pham Binh Thanh Vo Anh-Thu Huynh Dang Luan Thanh Nguyen Thien-Chi Van Nguyen Hong-Anh Thi Pham Thanh-Truong Tran Long Hung Nguyen Thanh-Thanh Thi Nguyen Kim-Huong Thi Nguyen Yen-Vi Vu Nguyen Huu Nguyen Vinh-Quang Bui Hai-Ha Bui Thanh-Thuy Thi Do Nien Vinh Lam Kiet Truong Dinh Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang |
author_sort |
Le Son Tran |
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 |
title_short |
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 |
title_full |
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 |
title_fullStr |
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 |
title_full_unstemmed |
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 |
title_sort |
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 |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Oncology |
issn |
2234-943X |
publishDate |
2020-08-01 |
description |
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. |
topic |
liquid biopsy circulating tumor DNA non-small cell lung cancer actionable mutations ultra-deep sequencing tissue biopsy |
url |
https://www.frontiersin.org/article/10.3389/fonc.2020.01351/full |
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