Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.

Journal: JAMA
Published Date: Nov 17, 2020

Abstract

IMPORTANCE: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.

Authors

  • Saud H AlDubayan
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Jake R Conway
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Sabrina Y Camp
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Leora Witkowski
    Genetics Training Program, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Eric Kofman
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Brendan Reardon
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Seunghun Han
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Nicholas Moore
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Haitham Elmarakeby
    Department of Computer Science, Virginia Polytechnic Institute and State University Blacksburg, VA, USA.
  • Keyan Salari
    Department of Urology, Massachusetts General Hospital, Boston.
  • Hani Choudhry
    Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abdullah M Al-Rubaish
    College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
  • Abdulsalam A Al-Sulaiman
    College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
  • Amein K Al-Ali
    College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
  • Amaro Taylor-Weiner
    Cancer Program, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge.
  • Eliezer M Van Allen
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.

Keywords

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