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dc.contributor.authorPelttari, LM
dc.contributor.authorKhan, S
dc.contributor.authorVuorela, M
dc.contributor.authorKiiski, JI
dc.contributor.authorVilske, S
dc.contributor.authorNevanlinna, V
dc.contributor.authorRanta, S
dc.contributor.authorSchleutker, J
dc.contributor.authorWinqvist, R
dc.contributor.authorKallioniemi, A
dc.contributor.authorDörk, T
dc.contributor.authorBogdanova, NV
dc.contributor.authorFigueroa, J
dc.contributor.authorPharoah, PDP
dc.contributor.authorSchmidt, MK
dc.contributor.authorDunning, AM
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorBolla, MK
dc.contributor.authorDennis, J
dc.contributor.authorMichailidou, K
dc.contributor.authorWang, Q
dc.contributor.authorHopper, JL
dc.contributor.authorSouthey, MC
dc.contributor.authorRosenberg, EH
dc.contributor.authorFasching, PA
dc.contributor.authorBeckmann, MW
dc.contributor.authorPeto, J
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorSawyer, EJ
dc.contributor.authorTomlinson, I
dc.contributor.authorBurwinkel, B
dc.contributor.authorSurowy, H
dc.contributor.authorGuénel, P
dc.contributor.authorTruong, T
dc.contributor.authorBojesen, SE
dc.contributor.authorNordestgaard, BG
dc.contributor.authorBenitez, J
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorNeuhausen, SL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorBrenner, H
dc.contributor.authorArndt, V
dc.contributor.authorMeindl, A
dc.contributor.authorSchmutzler, RK
dc.contributor.authorBrauch, H
dc.contributor.authorBrüning, T
dc.contributor.authorLindblom, A
dc.contributor.authorMargolin, S
dc.contributor.authorMannermaa, A
dc.contributor.authorHartikainen, JM
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.authorVan Dyck, L
dc.contributor.authorJanssen, H
dc.contributor.authorChang-Claude, J
dc.contributor.authorRudolph, A
dc.contributor.authorRadice, P
dc.contributor.authorPeterlongo, P
dc.contributor.authorHallberg, E
dc.contributor.authorOlson, JE
dc.contributor.authorGiles, GG
dc.contributor.authorMilne, RL
dc.contributor.authorHaiman, CA
dc.contributor.authorSchumacher, F
dc.contributor.authorSimard, J
dc.contributor.authorDumont, M
dc.contributor.authorKristensen, V
dc.contributor.authorBorresen-Dale, A-L
dc.contributor.authorZheng, W
dc.contributor.authorBeeghly-Fadiel, A
dc.contributor.authorGrip, M
dc.contributor.authorAndrulis, IL
dc.contributor.authorGlendon, G
dc.contributor.authorDevilee, P
dc.contributor.authorSeynaeve, C
dc.contributor.authorHooning, MJ
dc.contributor.authorCollée, M
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorShah, M
dc.contributor.authorLuben, RN
dc.contributor.authorHamann, U
dc.contributor.authorTorres, D
dc.contributor.authorJakubowska, A
dc.contributor.authorLubinski, J
dc.contributor.authorCouch, FJ
dc.contributor.authorYannoukakos, D
dc.contributor.authorOrr, N
dc.contributor.authorSwerdlow, A
dc.contributor.authorDarabi, H
dc.contributor.authorLi, J
dc.contributor.authorCzene, K
dc.contributor.authorHall, P
dc.contributor.authorEaston, DF
dc.contributor.authorMattson, J
dc.contributor.authorBlomqvist, C
dc.contributor.authorAittomäki, K
dc.contributor.authorNevanlinna, H
dc.date.accessioned2017-11-08T12:47:31Z
dc.date.issued2016-01
dc.identifier.citationPloS one, 2016, 11 (5), pp. e0153788 - ?
dc.identifier.issn1932-6203
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/906
dc.identifier.eissn1932-6203
dc.identifier.doi10.1371/journal.pone.0153788
dc.description.abstractCommon variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
dc.formatElectronic-eCollection
dc.format.extente0153788 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectkConFab/AOCS Investigators
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectDNA-Binding Proteins
dc.subjectHaplotypes
dc.subjectHeterozygote
dc.subjectMutation, Missense
dc.subjectPolymorphism, Single Nucleotide
dc.subjectMiddle Aged
dc.subjectFinland
dc.subjectFemale
dc.subjectMale
dc.subjectGenotyping Techniques
dc.titleRAD51B in Familial Breast Cancer.
dc.typeJournal Article
dcterms.dateAccepted2016-04-04
rioxxterms.versionofrecord10.1371/journal.pone.0153788
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfPloS one
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/Complex Trait Genetics
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/Complex Trait Genetics
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.volume11
pubs.embargo.termsNot known
icr.researchteamComplex Trait Geneticsen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorOrr, Nicholasen
dc.contributor.icrauthorSwerdlow, Anthonyen


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