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. 2022 Sep:6:e2100516.
doi: 10.1200/PO.21.00516.

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Edward D Esplin  1 , Sarah M Nielsen  1 , Sara L Bristow  1 , Judy E Garber  2 , Heather Hampel  3 , Huma Q Rana  2 , N Jewel Samadder  4   5   6 , Neal D Shore  7 , Robert L Nussbaum  1
Affiliations

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

Edward D Esplin et al. JCO Precis Oncol. 2022 Sep.
No abstract available

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Conflict of interest statement

<b>Edward D. Esplin</b><b>Employment:</b> Invitae<b>Stock and Other Ownership Interests:</b> Invitae<b>Consulting or Advisory Role:</b> Taproot Health Inc <b>Sarah M. Nielsen</b><b>Employment:</b> Invitae<b>Stock and Other Ownership Interests:</b> Invitae<b>Travel, Accommodations, Expense:</b> Invitae <b>Sara L. Bristow</b><b>Employment:</b> Invitae<b>Stock and Other Ownership Interests:</b> Invitae <b>Judy E. Garber</b><b>Stock and Other Ownership Interests:</b> Kronos Bio (I)<b>Consulting or Advisory Role:</b> Novartis (I), GTx (I), Helix BioPharma (I), Konica Minolta, Aleta BioTherapeutics (I), H3 Biomedicine (I), Kronos Bio (I)<b>Research Funding:</b> Novartis (I), Ambry Genetics, Invitae, Myriad Genetics<b>Other Relationship:</b> AACR, Diana Helis Henry Medical Foundation (I), James P. Wilmot Foundation (I), Adrienne Helis Malvin Medical Research Foundation (I), Breast Cancer Research Foundation, Facing our Risk of Cancer Empowered <b>Heather Hampel</b>This author is an Editor for <i>JCO Precision Oncology</i>. Journal policy recused the author from having any role in the peer review of this manuscript.<b>Stock and Other Ownership Interests:</b> Genome Medical, GI OnDemand<b>Consulting or Advisory Role:</b> Invitae, Genome Medical, Promega, 23andMe, GI OnDemand <b>Huma Q. Rana</b><b>Research Funding:</b> Ambry Genetics, Invitae <b>N. Jewel Samadder</b><b>Consulting or Advisory Role:</b> Janssen Research &amp; Development, Cancer Prevention Pharmaceuticals, Recursion Pharmaceuticals <b>Neal D. Shore</b><b>Consulting or Advisory Role:</b> Bayer, Janssen Scientific Affairs, Dendreon, Tolmar, Ferring, Medivation/Astellas, Amgen, Pfizer, AstraZeneca, Myovant Sciences, Astellas Pharma, AbbVie, Merck, Bristol Myers Squibb/Sanofi, Boston Scientific, Clovis Oncology, Exact Imaging, FerGene, Foundation Medicine, CG Oncology, Invitae, MDxHealth, Myriad Genetics, Nymox, Propella Therapeutics, Genzyme, Sanofi, Sesen Bio, Exact Sciences, Genesis Cancer Care, Pacific Edge Biotechnology, Phosphorus, UroGen Pharma, Speciality Networks, PeerView, Clarity Pharmaceuticals, Lantheus, Lilly, Photocure, Sema4, Telix Pharmaceuticals, Tempus, Vaxilon<b>Speaker's Bureau:</b> Janssen, Bayer, Dendreon, Astellas Pharma, AstraZeneca, Clovis Oncology, Pfizer, Guardant Health, Merck, Foundation Medicine<b>Research Funding:</b> AbbVie, Amgen, Astellas Pharma, AstraZeneca, Bayer, Bristol Myers Squibb/Pfizer, Boston Scientific, Clovis Oncology, Dendreon, Exact Imaging, Ferring, Foundation Medicine, Invitae, Janssen, MDxHealth, Merck, Myovant Sciences, Myriad Genetics, Nymox, Pfizer, Sanofi, Sesen Bio, Tolmar, CG Oncology, DisperSol, Forma Therapeutics, Guardant Health, Jiangsu Yahong Meditech, Novartis, Pacific Biopharma, POINT Biopharma, Propella Therapeutics, Seattle Genetics, MT Group, Theralase, Veru, Zenflow, Advantagene, Aragon Pharmaceuticals, Endocyte, Exelixis, FKD Therapies, Genentech, Istari Oncology, Medivation, OncoCell MDx, ORIC Pharmaceuticals, Palette Life Sciences, Plexxikon, RhoVac, Steba Biotech, UroGen Pharma, Urotronic, US Biotest, Vaxilon<b>Expert Testimony:</b> Ferring <b>Robert Luke Nussbaum</b><b>Employment:</b> Invitae<b>Leadership:</b> Invitae<b>Stock and Other Ownership Interests:</b> Genome Medical, Maze Therapeutics, Invitae<b>Honoraria:</b> Pfizer<b>Consulting or Advisory Role:</b> Genome Medical, Maze Therapeutics, Pfizer<b>Patents, Royalties, Other Intellectual Property:</b> Royalties on a patented mouse model for Parkinson disease held by the National Institutes of Health and the University of California San Francisco<b>Open Payments link:</b> https://openpaymentsdata.cms.gov/physician/603319/summaryNo other potential conflicts of interest were reported.

Figures

FIG 1.
FIG 1.
Average diagnostic yield of PGVs across different cancers. (A) The overall diagnostic yields (percentages of all patients with a PGV) of all referenced studies (Data Supplement) were averaged in cohorts unselected for family history or other clinical factors (ie, all patients with that cancer type). Bars indicate the range of reported yields of PGVs in different studies. (B) Diagnostic yield across cancer types on the basis of meeting (or not meeting) testing guidelines was averaged. Studies were included if participants were categorized according to whether they met the screening guidelines that were being assessed. In both figure panels, differences in the cohort size in these reports were not taken into account. GU, genitourinary; PGV, pathogenic germline variant.
See this image and copyright information in PMC

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