Germline-focussed analysis of tumour-only sequencing: Recommendations from the ESMO Precision Medicine Working Group Guidelines

   


Authors: Mandelker, D.; Donoghue, M.; Talukdar, S.; Bandlamudi, C.; Srinivasan, P.; Vivek, M.; Jezdic, S.; Hanson, H.; Snape, K.; Kulkarni, A.; Hawkes, L.; Douillard, J. Y.; Wallace, S. E.; Rial-Sebbag, E.; Meric-Bersntam, F.; George, A.; Chubb, D.; Loveday, C.; Ladanyi, M.; Berger, M. F.; Taylor, B. S.; Turnbull, C.
Title: Germline-focussed analysis of tumour-only sequencing: Recommendations from the ESMO Precision Medicine Working Group
Abstract: It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear whether they are of somatic or constitutional (germline) origin. There is wide-spread disparity regarding both the extent to which systematic 'germline-focussed analysis' is carried out upon tumour sequencing data and for which variants follow-up analysis of a germline sample is carried out. Here we present analyses of paired sequencing data from 17 152 cancer samples, in which 1494 pathogenic sequence variants were identified across 65 cancer susceptibility genes. From these analyses, the European Society of Medical Oncology Precision Medicine Working Group Germline Subgroup has generated (i) recommendations regarding germline-focussed analyses of tumour-only sequencing data, (ii) indications for germline follow-up testing and (iii) guidance on patient information-giving and consent. © 2019 The Author(s). Published by Oxford University Press on behalf of the European Society for Medical Oncology.
Keywords: adult; controlled study; human cell; major clinical study; follow up; gene; germline; germ line; patient information; personalized medicine; sequencing; susceptibility; predisposition; panel; human; male; female; article
Journal Title: Annals of Oncology
Volume: 30
Issue: 8
ISSN: 0923-7534
Publisher: Oxford University Press  
Date Published: 2019-08-01
Start Page: 1221
End Page: 1231
Language: English
DOI: 10.1093/annonc/mdz136
PUBMED: 31050713
PROVIDER: scopus
PMCID: PMC6683854
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85072730488&doi=10.1093%2fannonc%2fmdz136&partnerID=40&md5=2a25ad0ea4e60d023304a6c98ddf64be
Notes: Article -- Erratum issued, see DOI: 10.1016/j.annonc.2021.05.798 -- Export Date: 1 November 2019 -- Source: Scopus
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MSK Authors
  1. Marc Ladanyi
    1328 Ladanyi
  2. Michael Forman Berger
    766 Berger
  3. Barry Stephen Taylor
    238 Taylor
  4. Diana Lauren Mandelker
    178 Mandelker
  5. Preethi Srinivasan
    30 Srinivasan
  6. Mark Donoghue
    94 Donoghue
  7. Chaitanya Bandlamudi
    79 Bandlamudi
  8. Malavika Vivek
    3 Vivek
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