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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

dc.contributor.authorColombo, M
dc.contributor.authorLopez-Perolio, I
dc.contributor.authorMeeks, HD
dc.contributor.authorCaleca, L
dc.contributor.authorParsons, MT
dc.contributor.authorLi, H
dc.contributor.authorDe Vecchi, G
dc.contributor.authorTudini, E
dc.contributor.authorFoglia, C
dc.contributor.authorMondini, P
dc.contributor.authorManoukian, S
dc.contributor.authorBehar, R
dc.contributor.authorGarcia, EBG
dc.contributor.authorMeindl, A
dc.contributor.authorMontagna, M
dc.contributor.authorNiederacher, D
dc.contributor.authorSchmidt, AY
dc.contributor.authorVaresco, L
dc.contributor.authorWappenschmidt, B
dc.contributor.authorBolla, MK
dc.contributor.authorDennis, J
dc.contributor.authorMichailidou, K
dc.contributor.authorWang, Q
dc.contributor.authorAittomaki, K
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorBeckmann, MW
dc.contributor.authorBeeghly-Fadel, A
dc.contributor.authorBenitez, J
dc.contributor.authorBoeckx, B
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBonanni, B
dc.contributor.authorBrauch, H
dc.contributor.authorBrenner, H
dc.contributor.authorBurwinkel, B
dc.contributor.authorChang-Claude, J
dc.contributor.authorConroy, DM
dc.contributor.authorCouch, FJ
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDevilee, P
dc.contributor.authorDork, T
dc.contributor.authorEriksson, M
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFletcher, O
dc.contributor.authorFlyger, H
dc.contributor.authorGabrielson, M
dc.contributor.authorGarcia-Closas, M
dc.contributor.authorGiles, GG
dc.contributor.authorGonzalez-Neira, A
dc.contributor.authorGuenel, P
dc.contributor.authorHaiman, CA
dc.contributor.authorHall, P
dc.contributor.authorHamann, U
dc.contributor.authorHartman, M
dc.contributor.authorHauke, J
dc.contributor.authorHollestelle, A
dc.contributor.authorHopper, JL
dc.contributor.authorJakubowska, A
dc.contributor.authorJung, A
dc.contributor.authorKosma, V-M
dc.contributor.authorLambrechts, D
dc.contributor.authorLe Marchand, L
dc.contributor.authorLindblom, A
dc.contributor.authorLubinski, J
dc.contributor.authorMannermaa, A
dc.contributor.authorMargolin, S
dc.contributor.authorMiao, H
dc.contributor.authorMilne, RL
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorOlson, JE
dc.contributor.authorPeterlongo, P
dc.contributor.authorPeto, J
dc.contributor.authorPylkas, K
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, MK
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSchneeweiss, A
dc.contributor.authorSchoemaker, MJ
dc.contributor.authorSee, MH
dc.contributor.authorSouthey, MC
dc.contributor.authorSwerdlow, A
dc.contributor.authorTeo, SH
dc.contributor.authorToland, AE
dc.contributor.authorTomlinson, I
dc.contributor.authorTruong, T
dc.contributor.authorvan Asperen, CJ
dc.contributor.authorvan den Ouweland, AMW
dc.contributor.authorvan der Kolk, LE
dc.contributor.authorWinqvist, R
dc.contributor.authorYannoukakos, D
dc.contributor.authorZheng, W
dc.contributor.authorDunning, AM
dc.contributor.authorEaston, DF
dc.contributor.authorHenderson, A
dc.contributor.authorHogervorst, FBL
dc.contributor.authorIzatt, L
dc.contributor.authorOffitt, K
dc.contributor.authorSide, LE
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorMcGuffog, L
dc.contributor.authorAntoniou, AC
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorSpurdle, AB
dc.contributor.authorGoldgar, DE
dc.contributor.authorde la Hoya, M
dc.contributor.authorRadice, P
dc.contributor.authorInvestigators, KAOCS
dc.contributor.authorEMBRACE, S
dc.contributor.authorHEBON, S
dc.date.accessioned2019-01-25T09:25:06Z
dc.date.issued2018-05
dc.identifierhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000433600000012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4b848928d1c3e5c86d298abb68475f9
dc.identifier.citationHUMAN MUTATION, 2018, 39 (5), pp. 729 - 741
dc.identifier.issn1059-7794
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3020
dc.identifier.eissn1098-1004
dc.identifier.doi10.1002/humu.23411
dc.format.extent729 - 741
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectBRCA2
dc.subjectdigital PCR
dc.subjectmultifactorial likelihood analysis
dc.subjectquantitative real-time PCR
dc.subjectspliceogenic variants
dc.titleThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
dc.typeJournal Article
dcterms.dateAccepted2018-02-10
rioxxterms.versionofrecord10.1002/humu.23411
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2018-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfHUMAN MUTATION
pubs.issue5
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume39
pubs.embargo.termsNot known
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorFletcher, Oliviaen
dc.contributor.icrauthorSchoemaker, Minouken
dc.contributor.icrauthorSwerdlow, Anthonyen


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