title: Capture-based next-generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing.
abstract: BACKGROUND
  Targeted therapies including monoclonal antibodies and small molecule inhibitors have dramatically changed the treatment of cancer over past 10 years. Their therapeutic advantages are more tumor specific and with less side effects. For precisely tailoring available targeted therapies to each individual or a subset of cancer patients, next-generation sequencing (NGS) has been utilized as a promising diagnosis tool with its advantages of accuracy, sensitivity, and high throughput.
  
  
  METHODS
  We developed and validated a NGS-based cancer genomic diagnosis targeting 115 prognosis and therapeutics relevant genes on multiple specimen including blood, tumor tissue, and body fluid from 10 patients with different cancer types. The sequencing data was then analyzed by the clinical-applicable analytical pipelines developed in house.
  
  
  RESULTS
  We have assessed analytical sensitivity, specificity, and accuracy of the NGS-based molecular diagnosis. Also, our developed analytical pipelines were capable of detecting base substitutions, indels, and gene copy number variations (CNVs). For instance, several actionable mutations of EGFR,PIK3CA,TP53, and KRAS have been detected for indicating drug susceptibility and resistance in the cases of lung cancer.
  
  
  CONCLUSIONS
  Our study has shown that NGS-based molecular diagnosis is more sensitive and comprehensive to detect genomic alterations in cancer, and supports a direct clinical use for guiding targeted therapy.
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Department of PathologyRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Jing
authors.initials: J
authors.lastname: Xie
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Xiongxiong
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Research and Development Geneseeq Technology Inc. Toronto Ontario Canada.
authors.forename: Xue
authors.initials: X
authors.lastname: Wu
authors.affiliation: Department of Laboratory Medicine Ruijin Hospital School of Medicine Shanghai Jiao Tong University Shanghai China.
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Research and Development Geneseeq Technology Inc. Toronto Ontario Canada.
authors.forename: Chao
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Research and Development Geneseeq Technology Inc. Toronto Ontario Canada.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Huang
authors.affiliation: Department of Research and Development Geneseeq Technology Inc. Toronto Ontario Canada.
authors.forename: Zhili
authors.initials: Z
authors.lastname: Chang
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Xinjing
authors.initials: X
authors.lastname: Wang
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Chenlei
authors.initials: C
authors.lastname: Wen
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Tang
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Minmin
authors.initials: M
authors.lastname: Shi
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhan
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Hao
authors.initials: H
authors.lastname: Chen
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Xiaxing
authors.initials: X
authors.lastname: Deng
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Chenghong
authors.initials: C
authors.lastname: Peng
authors.affiliation: Pancreatic Disease Centre Ruijin Hospital School of Medicine Shanghai Jiao Tong University Shanghai China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Li
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Fang
authors.affiliation: Department of Research and DevelopmentGeneseeq Technology Inc.TorontoOntarioCanada; Department of Medical BiophysicsUniversity of TorontoTorontoOntarioCanada.
authors.forename: Yang
authors.initials: Y
authors.lastname: Shao
authors.affiliation: Research Institute of Pancreatic DiseaseRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Pancreatic Disease CentreRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina; Shanghai Institute of Digestive SurgeryRuijin HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina.
authors.forename: Baiyong
authors.initials: B
authors.lastname: Shen
keywords: Next‐generation sequencing; molecular diagnosis, cancer panel; targeted therapy