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dc.contributor.authorMandelker, D
dc.contributor.authorDonoghue, M
dc.contributor.authorTalukdar, S
dc.contributor.authorBandlamudi, C
dc.contributor.authorSrinivasan, P
dc.contributor.authorVivek, M
dc.contributor.authorJezdic, S
dc.contributor.authorHanson, H
dc.contributor.authorSnape, K
dc.contributor.authorKulkarni, A
dc.contributor.authorHawkes, L
dc.contributor.authorDouillard, J-Y
dc.contributor.authorWallace, SE
dc.contributor.authorRial-Sebbag, E
dc.contributor.authorMeric-Bersntam, F
dc.contributor.authorGeorge, A
dc.contributor.authorChubb, D
dc.contributor.authorLoveday, C
dc.contributor.authorLadanyi, M
dc.contributor.authorBerger, MF
dc.contributor.authorTaylor, BS
dc.contributor.authorTurnbull, C
dc.date.accessioned2020-04-03T11:17:01Z
dc.date.issued2019-08
dc.identifier.citationAnnals of oncology : official journal of the European Society for Medical Oncology, 2019, 30 (8), pp. 1221 - 1231
dc.identifier.issn0923-7534
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3583
dc.identifier.eissn1569-8041
dc.identifier.doi10.1093/annonc/mdz136
dc.description.abstractIt 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.
dc.formatPrint
dc.format.extent1221 - 1231
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectDNA Mutational Analysis
dc.subjectMedical Oncology
dc.subjectGerm-Line Mutation
dc.subjectEuropean Union
dc.subjectInformed Consent
dc.subjectSocieties, Medical
dc.subjectPractice Guidelines as Topic
dc.subjectGenetic Testing
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectBiomarkers, Tumor
dc.subjectPrecision Medicine
dc.titleGermline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
dc.typeJournal Article
dcterms.dateAccepted2019-08-01
rioxxterms.versionofrecord10.1093/annonc/mdz136
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by-nc/4.0
rioxxterms.licenseref.startdate2019-08
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAnnals of oncology : official journal of the European Society for Medical Oncology
pubs.issue8
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR
pubs.publication-statusPublished
pubs.volume30
pubs.embargo.termsNot known
dc.contributor.icrauthorTurnbull, Clareen


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