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dc.contributor.authorShimelis, H
dc.contributor.authorMesman, RLS
dc.contributor.authorVon Nicolai, C
dc.contributor.authorEhlen, A
dc.contributor.authorGuidugli, L
dc.contributor.authorMartin, C
dc.contributor.authorCalléja, FMGR
dc.contributor.authorMeeks, H
dc.contributor.authorHallberg, E
dc.contributor.authorHinton, J
dc.contributor.authorLilyquist, J
dc.contributor.authorHu, C
dc.contributor.authorAalfs, CM
dc.contributor.authorAittomäki, K
dc.contributor.authorAndrulis, I
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorBeckmann, MW
dc.contributor.authorBenitez, J
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBolla, MK
dc.contributor.authorBorresen-Dale, A-L
dc.contributor.authorBrauch, H
dc.contributor.authorBrennan, P
dc.contributor.authorBrenner, H
dc.contributor.authorBroeks, A
dc.contributor.authorBrouwers, B
dc.contributor.authorBrüning, T
dc.contributor.authorBurwinkel, B
dc.contributor.authorChang-Claude, J
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorCheng, C-Y
dc.contributor.authorChoi, J-Y
dc.contributor.authorCollée, JM
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDarabi, H
dc.contributor.authorDennis, J
dc.contributor.authorDörk, T
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorDunning, AM
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFlyger, H
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGiles, GG
dc.contributor.authorGlendon, G
dc.contributor.authorGuénel, P
dc.contributor.authorHaiman, CA
dc.contributor.authorHall, P
dc.contributor.authorHamann, U
dc.contributor.authorHartman, M
dc.contributor.authorHogervorst, FB
dc.contributor.authorHollestelle, A
dc.contributor.authorHopper, JL
dc.contributor.authorIto, H
dc.contributor.authorJakubowska, A
dc.contributor.authorKang, D
dc.contributor.authorKosma, V-M
dc.contributor.authorKristensen, V
dc.contributor.authorLai, K-N
dc.contributor.authorLambrechts, D
dc.contributor.authorMarchand, LL
dc.contributor.authorLi, J
dc.contributor.authorLindblom, A
dc.contributor.authorLophatananon, A
dc.contributor.authorLubinski, J
dc.contributor.authorMachackova, E
dc.contributor.authorMannermaa, A
dc.contributor.authorMargolin, S
dc.contributor.authorMarme, F
dc.contributor.authorMatsuo, K
dc.contributor.authorMiao, H
dc.contributor.authorMichailidou, K
dc.contributor.authorMilne, RL
dc.contributor.authorMuir, K
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorOlson, JE
dc.contributor.authorOlswold, C
dc.contributor.authorOosterwijk, JJC
dc.contributor.authorOsorio, A
dc.contributor.authorPeterlongo, P
dc.contributor.authorPeto, J
dc.contributor.authorPharoah, PDP
dc.contributor.authorPylkäs, K
dc.contributor.authorRadice, P
dc.contributor.authorRashid, MU
dc.contributor.authorRhenius, V
dc.contributor.authorRudolph, A
dc.contributor.authorSangrajrang, S
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, MK
dc.contributor.authorSchoemaker, MJ
dc.contributor.authorSeynaeve, C
dc.contributor.authorShah, M
dc.contributor.authorShen, C-Y
dc.contributor.authorShrubsole, M
dc.contributor.authorShu, X-O
dc.contributor.authorSlager, S
dc.contributor.authorSouthey, MC
dc.contributor.authorStram, DO
dc.contributor.authorSwerdlow, A
dc.contributor.authorTeo, SH
dc.contributor.authorTomlinson, I
dc.contributor.authorTorres, D
dc.contributor.authorTruong, T
dc.contributor.authorvan Asperen, CJ
dc.contributor.authorvan der Kolk, LE
dc.contributor.authorWang, Q
dc.contributor.authorWinqvist, R
dc.contributor.authorWu, AH
dc.contributor.authorYu, J-C
dc.contributor.authorZheng, W
dc.contributor.authorZheng, Y
dc.contributor.authorLeary, J
dc.contributor.authorWalker, L
dc.contributor.authorForetova, L
dc.contributor.authorFostira, F
dc.contributor.authorClaes, KBM
dc.contributor.authorVaresco, L
dc.contributor.authorMoghadasi, S
dc.contributor.authorEaston, DF
dc.contributor.authorSpurdle, A
dc.contributor.authorDevilee, P
dc.contributor.authorVrieling, H
dc.contributor.authorMonteiro, ANA
dc.contributor.authorGoldgar, DE
dc.contributor.authorCarreira, A
dc.contributor.authorVreeswijk, MPG
dc.contributor.authorCouch, FJ
dc.contributor.authorfor kConFab/AOCS Investigators
dc.contributor.authorfor NBCS Collaborators
dc.date.accessioned2017-03-24T15:02:43Z
dc.date.issued2017-06
dc.identifier.citationCancer research, 2017, 77 (11), pp. 2789 - 2799
dc.identifier.issn0008-5472
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/520
dc.identifier.eissn1538-7445en_US
dc.identifier.doi10.1158/0008-5472.can-16-2568en_US
dc.description.abstractBreast cancer risks conferred by many germline missense variants in the <i>BRCA1</i> and <i>BRCA2</i> genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. <i>Cancer Res; 77(11); 2789-99. ©2017 AACR</i>.
dc.formatPrint-Electronic
dc.format.extent2789 - 2799
dc.languageeng
dc.language.isoeng
dc.subjectfor kConFab/AOCS Investigators
dc.subjectfor NBCS Collaborators
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectBreast Neoplasms
dc.subjectBRCA2 Protein
dc.subjectRisk
dc.subjectCase-Control Studies
dc.subjectAmino Acid Substitution
dc.subjectGenotype
dc.subjectGerm-Line Mutation
dc.subjectMutation, Missense
dc.subjectAged
dc.subjectFemale
dc.title<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
dc.typeJournal Article
dcterms.dateAccepted2017-03-03
rioxxterms.versionofrecord10.1158/0008-5472.can-16-2568
rioxxterms.licenseref.startdate2017-06en_US
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfCancer research
pubs.issue11
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/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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume77en_US
pubs.embargo.termsNot known
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSchoemaker, Minouken
dc.contributor.icrauthorSwerdlow, Anthonyen


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