Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
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Date
2019-08-01ICR Author
Author
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, SE
Rial-Sebbag, E
Meric-Bersntam, F
George, A
Chubb, D
Loveday, C
Ladanyi, M
Berger, MF
Taylor, BS
Turnbull, C
Type
Journal Article
Metadata
Show full item recordAbstract
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.
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Subject
Humans
Neoplasms
Genetic Predisposition to Disease
DNA Mutational Analysis
Medical Oncology
Germ-Line Mutation
European Union
Informed Consent
Societies, Medical
Practice Guidelines as Topic
Genetic Testing
High-Throughput Nucleotide Sequencing
Biomarkers, Tumor
Precision Medicine
Language
eng
Date accepted
2019-08-01
License start date
2019-08
Citation
Annals of oncology : official journal of the European Society for Medical Oncology, 2019, 30 (8), pp. 1221 - 1231
Publisher
OXFORD UNIV PRESS