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dc.contributor.authorEaston, DF
dc.contributor.authorLesueur, F
dc.contributor.authorDecker, B
dc.contributor.authorMichailidou, K
dc.contributor.authorLi, J
dc.contributor.authorAllen, J
dc.contributor.authorLuccarini, C
dc.contributor.authorPooley, KA
dc.contributor.authorShah, M
dc.contributor.authorBolla, MK
dc.contributor.authorWang, Q
dc.contributor.authorDennis, J
dc.contributor.authorAhmad, J
dc.contributor.authorThompson, ER
dc.contributor.authorDamiola, F
dc.contributor.authorPertesi, M
dc.contributor.authorVoegele, C
dc.contributor.authorMebirouk, N
dc.contributor.authorRobinot, N
dc.contributor.authorDurand, G
dc.contributor.authorForey, N
dc.contributor.authorLuben, RN
dc.contributor.authorAhmed, S
dc.contributor.authorAittomäki, K
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorAustralian Ovarian Cancer Study Group
dc.contributor.authorBaynes, C
dc.contributor.authorBeckman, MW
dc.contributor.authorBenitez, J
dc.contributor.authorVan Den Berg, D
dc.contributor.authorBlot, WJ
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBrenner, H
dc.contributor.authorChang-Claude, J
dc.contributor.authorChia, KS
dc.contributor.authorChoi, J-Y
dc.contributor.authorConroy, DM
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDarabi, H
dc.contributor.authorDevilee, P
dc.contributor.authorEriksson, M
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFlyger, H
dc.contributor.authorFostira, F
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGiles, GG
dc.contributor.authorGlendon, G
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorGuénel, P
dc.contributor.authorHaiman, CA
dc.contributor.authorHall, P
dc.contributor.authorHart, SN
dc.contributor.authorHartman, M
dc.contributor.authorHooning, MJ
dc.contributor.authorHsiung, C-N
dc.contributor.authorIto, H
dc.contributor.authorJakubowska, A
dc.contributor.authorJames, PA
dc.contributor.authorJohn, EM
dc.contributor.authorJohnson, N
dc.contributor.authorJones, M
dc.contributor.authorKabisch, M
dc.contributor.authorKang, D
dc.contributor.authorkConFab Investigators
dc.contributor.authorKosma, V-M
dc.contributor.authorKristensen, V
dc.contributor.authorLambrechts, D
dc.contributor.authorLi, N
dc.contributor.authorLifepool Investigators
dc.contributor.authorLindblom, A
dc.contributor.authorLong, J
dc.contributor.authorLophatananon, A
dc.contributor.authorLubinski, J
dc.contributor.authorMannermaa, A
dc.contributor.authorManoukian, S
dc.contributor.authorMargolin, S
dc.contributor.authorMatsuo, K
dc.contributor.authorMeindl, A
dc.contributor.authorMitchell, G
dc.contributor.authorMuir, K
dc.contributor.authorNBCS Investigators
dc.contributor.authorNevelsteen, I
dc.contributor.authorvan den Ouweland, A
dc.contributor.authorPeterlongo, P
dc.contributor.authorPhuah, SY
dc.contributor.authorPylkäs, K
dc.contributor.authorRowley, SM
dc.contributor.authorSangrajrang, S
dc.contributor.authorSchmutzler, RK
dc.contributor.authorShen, C-Y
dc.contributor.authorShu, X-O
dc.contributor.authorSouthey, MC
dc.contributor.authorSurowy, H
dc.contributor.authorSwerdlow, A
dc.contributor.authorTeo, SH
dc.contributor.authorTollenaar, RAEM
dc.contributor.authorTomlinson, I
dc.contributor.authorTorres, D
dc.contributor.authorTruong, T
dc.contributor.authorVachon, C
dc.contributor.authorVerhoef, S
dc.contributor.authorWong-Brown, M
dc.contributor.authorZheng, W
dc.contributor.authorZheng, Y
dc.contributor.authorNevanlinna, H
dc.contributor.authorScott, RJ
dc.contributor.authorAndrulis, IL
dc.contributor.authorWu, AH
dc.contributor.authorHopper, JL
dc.contributor.authorCouch, FJ
dc.contributor.authorWinqvist, R
dc.contributor.authorBurwinkel, B
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, MK
dc.contributor.authorRudolph, A
dc.contributor.authorDörk, T
dc.contributor.authorBrauch, H
dc.contributor.authorHamann, U
dc.contributor.authorNeuhausen, SL
dc.contributor.authorMilne, RL
dc.contributor.authorFletcher, O
dc.contributor.authorPharoah, PDP
dc.contributor.authorCampbell, IG
dc.contributor.authorDunning, AM
dc.contributor.authorLe Calvez-Kelm, F
dc.contributor.authorGoldgar, DE
dc.contributor.authorTavtigian, SV
dc.contributor.authorChenevix-Trench, G
dc.date.accessioned2019-07-05T12:22:05Z
dc.date.issued2016-05
dc.identifier.citationJournal of medical genetics, 2016, 53 (5), pp. 298 - 309
dc.identifier.issn0022-2593
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3283
dc.identifier.eissn1468-6244
dc.identifier.doi10.1136/jmedgenet-2015-103529
dc.description.abstractBackground BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.Methods We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.Results The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).Conclusions These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.
dc.formatPrint-Electronic
dc.format.extent298 - 309
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/all-rights-reserved
dc.subjectAustralian Ovarian Cancer Study Group
dc.subjectkConFab Investigators
dc.subjectLifepool Investigators
dc.subjectNBCS Investigators
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectRNA Helicases
dc.subjectDNA-Binding Proteins
dc.subjectRisk
dc.subjectCohort Studies
dc.subjectMutation
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectFanconi Anemia Complementation Group Proteins
dc.subjectGenetic Association Studies
dc.titleNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
dc.typeJournal Article
dcterms.dateAccepted2015-12-16
rioxxterms.versionofrecord10.1136/jmedgenet-2015-103529
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2016-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJournal of medical genetics
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.volume53en_US
pubs.embargo.termsNot known
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorFletcher, Oliviaen
dc.contributor.icrauthorSwerdlow, Anthonyen
dc.contributor.icrauthorJones, Michaelen


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