Concepedia

Pathogenic Germline Variants

Pathogenic Germline Variants is a type of germline genetic variant that is definitively associated with a disrupted gene function and confers an increased risk of developing cancer due to its inherited nature and disease-causing effect.

2.7K

Publications

124.8K

Citations

31.9K

Authors

5.1K

Institutions

Publications per year

2017–2026

2.2K

Variants

Pathogenic Germline Mutations

Parents

Publications

2.7K

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

Merrill D. Benson, Márcia Waddington‐Cruz, John L. Berk et al. · New England Journal of Medicine · 2018 · 1.4K citations · Full text

, , +16

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

Mary B. Daly, Tuya Pal, Michael P. Berry et al. · Journal of the National Comprehensive Cancer Network · 2021 · 1.1K citations · Full text

, , +17

Pathogenic Germline Variants in 10,389 Adult Cancers

Kuan‐lin Huang, R. Jay Mashl, Yige Wu et al. · Cell · 2018 · 888 citations · Full text

, , +17

A Population-Based Study of Genes Previously Implicated in Breast Cancer

Chunling Hu, Steven N. Hart, Rohan Gnanaolivu et al. · New England Journal of Medicine · 2021 · 866 citations · Full text

, , +17

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

New England Journal of Medicine · 2021 · 749 citations · Full text

, , +17

1–5 of 2.7K

Authors

31.9K

  1. DG
    D. Gareth Evans

    University of Manchester, United Kingdom

    43 publications · 3.4K citations

    27

    h-index

  2. FJ
    Fergus J. Couch

    Mayo Clinic, United States

    30 publications · 4.2K citations

    26

    h-index

  3. SM
    Susan M. Domchek

    University of Pennsylvania, United States

    30 publications · 5K citations

    24

    h-index

  4. JL
    John L. Hopper

    The University of Melbourne, Australia

    29 publications · 2.5K citations

    23

    h-index

  5. MT
    Marc Tischkowitz

    University of Cambridge, United Kingdom

    31 publications · 2.4K citations

    23

    h-index

1–5 of 31.9K

Institutions

5.1K

  1. Inserm

    Paris, France

    54 h-index

    1.4K publications

    117.5K citations

  2. Radboud University Nijmegen

    Nijmegen, The Netherlands

    47 h-index

    559 publications

    40.3K citations

  3. Radboud University Medical Center

    Nijmegen, The Netherlands

    46 h-index

    548 publications

    39.1K citations

  4. The University of Melbourne

    Melbourne, Australia

    46 h-index

    636 publications

    46.5K citations

  5. Memorial Sloan Kettering Cancer Center

    New York, United States

    45 h-index

    1.1K publications

    79.7K citations

  6. Harvard University

    Cambridge, United States

    45 h-index

    602 publications

    50.2K citations

  7. University of Pennsylvania

    Philadelphia, United States

    45 h-index

    327 publications

    27.7K citations

  8. University of Utah

    Salt Lake City, United States

    45 h-index

    204 publications

    17.8K citations

1–8 of 5.1K

Venues

  1. Human Mutation

    91 publications · 4.2K citations

    40

    h-index

  2. Genetics in Medicine

    GIM · 71 publications · 4.7K citations

    38

    h-index

  3. Journal of Medical Genetics

    JMG · 75 publications · 3.5K citations

    33

    h-index

  4. The American Journal of Human Genetics

    AJHG · 39 publications · 3.2K citations

    32

    h-index

  5. Journal of Clinical Oncology

    41 publications · 4.6K citations

    29

    h-index

1–5