Concepedia

Germline Mutation Testing

Germline Mutation Testing is a clinical genetic analysis that identifies inherited pathogenic variants in DNA sequences associated with hereditary cancer syndromes by examining germline cells, typically derived from blood or saliva, to determine an individual’s predisposition to cancer.

1.3K

Publications

87K

Citations

10.3K

Authors

2.4K

Institutions

Publications per year

2017–2026

494

Variants

Germline Genetic Testing

Parents

Publications

1.3K

The Risk of Cancer Associated with Specific Mutations of<i>BRCA1</i>and<i>BRCA2</i>among Ashkenazi Jews

Jeffery P. Struewing, Patricia Hartge, Sholom Wacholder et al. · New England Journal of Medicine · 1997 · 2.3K citations · Full text

, , +17

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

Colin C. Pritchard, Joaquı́n Mateo, Michael F. Walsh et al. · New England Journal of Medicine · 2016 · 1.7K citations · Full text

, , +17

<i>BRCA</i> Mutation Frequency and Patterns of Treatment Response in <i>BRCA</i> Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group

Kathryn Alsop, Sián Fereday, Cliff Meldrum et al. · Journal of Clinical Oncology · 2012 · 1.2K citations · Full text

, , +17

Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals

Thomas Frank · Journal of Clinical Oncology · 2002 · 826 citations

, , +17

Inherited Mutations in Women With Ovarian Carcinoma

Barbara M. Norquist, Maria I. Harrell, Mark F. Brady et al. · JAMA Oncology · 2015 · 764 citations · Full text

, , +17

1–5 of 1.3K

Authors

10.3K

  1. ME
    Mark E. Robson

    Memorial Sloan Kettering Cancer Center, United States

    26 publications · 4.5K citations

    21

    h-index

  2. KO
    Kenneth Offit

    Memorial Sloan Kettering Cancer Center, United States

    26 publications · 4.8K citations

    19

    h-index

  3. ZK
    Zsofia K. Stadler

    Memorial Sloan Kettering Cancer Center, United States

    19 publications · 1.8K citations

    18

    h-index

  4. JE
    Judy E. Garber

    Dana-Farber Cancer Institute, United States

    22 publications · 3.1K citations

    17

    h-index

  5. DM
    Diana Mandelker

    Memorial Sloan Kettering Cancer Center, United States

    18 publications · 1.3K citations

    16

    h-index

1–5 of 10.3K

Institutions

2.4K

  1. Dana-Farber Cancer Institute

    Boston, United States

    34 h-index

    232 publications

    28.8K citations

  2. Memorial Sloan Kettering Cancer Center

    New York, United States

    33 h-index

    570 publications

    85K citations

  3. Cancer Genetics (United States)

    Rutherford, United States

    32 h-index

    144 publications

    22.7K citations

  4. Mayo Clinic

    Rochester, United States

    29 h-index

    85 publications

    9.6K citations

  5. Inserm

    Paris, France

    27 h-index

    252 publications

    32.5K citations

  6. Harvard University

    Cambridge, United States

    27 h-index

    131 publications

    9.5K citations

  7. University of Pennsylvania

    Philadelphia, United States

    26 h-index

    113 publications

    8.8K citations

  8. Stanford University

    Stanford, United States

    25 h-index

    87 publications

    6.6K citations

1–8 of 2.4K

Venues

  1. Journal of Clinical Oncology

    57 publications · 12.3K citations

    42

    h-index

  2. Cancer

    38 publications · 2.9K citations

    27

    h-index

  3. Journal of Medical Genetics

    JMG · 38 publications · 3.1K citations

    26

    h-index

  4. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 27 publications · 2.4K citations

    24

    h-index

  5. Human Mutation

    32 publications · 2.1K citations

    23

    h-index

1–5