Show simple item record

dc.contributor.authorNielsen, SM
dc.contributor.authorEccles, DM
dc.contributor.authorRomero, IL
dc.contributor.authorAl-Mulla, F
dc.contributor.authorBalmaña, J
dc.contributor.authorBiancolella, M
dc.contributor.authorBslok, R
dc.contributor.authorCaligo, MA
dc.contributor.authorCalvello, M
dc.contributor.authorCapone, GL
dc.contributor.authorCavalli, P
dc.contributor.authorChan, TLC
dc.contributor.authorClaes, KBM
dc.contributor.authorCortesi, L
dc.contributor.authorCouch, FJ
dc.contributor.authorde la Hoya, M
dc.contributor.authorDe Toffol, S
dc.contributor.authorDiez, O
dc.contributor.authorDomchek, SM
dc.contributor.authorEeles, R
dc.contributor.authorEfremidis, A
dc.contributor.authorFostira, F
dc.contributor.authorGoldgar, D
dc.contributor.authorHadjisavvas, A
dc.contributor.authorHansen, TVO
dc.contributor.authorHirasawa, A
dc.contributor.authorHoudayer, C
dc.contributor.authorKleiblova, P
dc.contributor.authorKrieger, S
dc.contributor.authorLázaro, C
dc.contributor.authorLoizidou, M
dc.contributor.authorManoukian, S
dc.contributor.authorMensenkamp, AR
dc.contributor.authorMoghadasi, S
dc.contributor.authorMonteiro, AN
dc.contributor.authorMori, L
dc.contributor.authorMorrow, A
dc.contributor.authorNaldi, N
dc.contributor.authorNielsen, HR
dc.contributor.authorOlopade, OI
dc.contributor.authorPachter, NS
dc.contributor.authorPalmero, EI
dc.contributor.authorPedersen, IS
dc.contributor.authorPiane, M
dc.contributor.authorPuzzo, M
dc.contributor.authorRobson, M
dc.contributor.authorRossing, M
dc.contributor.authorSini, MC
dc.contributor.authorSolano, A
dc.contributor.authorSoukupova, J
dc.contributor.authorTedaldi, G
dc.contributor.authorTeixeira, M
dc.contributor.authorThomassen, M
dc.contributor.authorTibiletti, MG
dc.contributor.authorToland, A
dc.contributor.authorTörngren, T
dc.contributor.authorVaccari, E
dc.contributor.authorVaresco, L
dc.contributor.authorVega, A
dc.contributor.authorWallis, Y
dc.contributor.authorWappenschmidt, B
dc.contributor.authorWeitzel, J
dc.contributor.authorSpurdle, AB
dc.contributor.authorDe Nicolo, A
dc.contributor.authorGómez-García, EB
dc.date.accessioned2019-11-12T11:48:00Z
dc.date.issued2018-01
dc.identifier.citationJCO precision oncology, 2018, 2
dc.identifier.issn2473-4284
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3406
dc.identifier.eissn2473-4284
dc.identifier.doi10.1200/po.18.00091
dc.description.abstractPurpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non- BRCA1 / 2 genes.Methods Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the United Kingdom and in Italy.Results Responses from 61 cancer genetics practices across 20 countries showed that 16 genes were tested by > 50% of the centers, but only six ( PALB2 , TP53 , PTEN , CHEK2 , ATM , and BRIP1 ) were tested regularly. US centers tested the genes most often, whereas United Kingdom and Italian centers with no direct ENIGMA affiliation at the time of the survey were the least likely to regularly test them. Most centers tested the 16 genes through multigene panels; some centers tested TP53 , PTEN , and other cancer syndrome-associated genes individually. Most centers reported (likely) pathogenic variants to patients and would test family members for such variants. Gene-specific guidelines for breast and ovarian cancer risk management were limited and differed among countries, especially with regard to starting age and type of imaging and risk-reducing surgery recommendations.Conclusion Currently, a small number of genes beyond BRCA1 / 2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion. To attain clinical implementation of multigene panel testing through evidence-based management practices, it is paramount that clinicians (and patients) participate in international initiatives that share panel testing data, interpret sequence variants, and collect prospective data to underpin risk estimates and evaluate the outcome of risk intervention strategies.
dc.formatPrint-Electronic
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
dc.titleGenetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
dc.typeJournal Article
dcterms.dateAccepted2018-01-01
rioxxterms.versionofrecord10.1200/po.18.00091
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/under-embargo-all-rights-reserved
rioxxterms.licenseref.startdate2018-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJCO precision oncology
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublished
pubs.volume2
pubs.embargo.termsNot known
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden


Files in this item

Thumbnail

This item appears in the following collection(s)

Show simple item record