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dc.contributor.authorEaston, DFen_US
dc.contributor.authorLesueur, Fen_US
dc.contributor.authorDecker, Ben_US
dc.contributor.authorMichailidou, Ken_US
dc.contributor.authorLi, Jen_US
dc.contributor.authorAllen, Jen_US
dc.contributor.authorLuccarini, Cen_US
dc.contributor.authorPooley, KAen_US
dc.contributor.authorShah, Men_US
dc.contributor.authorBolla, MKen_US
dc.contributor.authorWang, Qen_US
dc.contributor.authorDennis, Jen_US
dc.contributor.authorAhmad, Jen_US
dc.contributor.authorThompson, ERen_US
dc.contributor.authorDamiola, Fen_US
dc.contributor.authorPertesi, Men_US
dc.contributor.authorVoegele, Cen_US
dc.contributor.authorMebirouk, Nen_US
dc.contributor.authorRobinot, Nen_US
dc.contributor.authorDurand, Gen_US
dc.contributor.authorForey, Nen_US
dc.contributor.authorLuben, RNen_US
dc.contributor.authorAhmed, Sen_US
dc.contributor.authorAittomäki, Ken_US
dc.contributor.authorAnton-Culver, Hen_US
dc.contributor.authorArndt, Ven_US
dc.contributor.authorBaynes, Cen_US
dc.contributor.authorBeckman, MWen_US
dc.contributor.authorBenitez, Jen_US
dc.contributor.authorVan Den Berg, Den_US
dc.contributor.authorBlot, WJen_US
dc.contributor.authorBogdanova, NVen_US
dc.contributor.authorBojesen, SEen_US
dc.contributor.authorBrenner, Hen_US
dc.contributor.authorChang-Claude, Jen_US
dc.contributor.authorChia, KSen_US
dc.contributor.authorChoi, JYen_US
dc.contributor.authorConroy, DMen_US
dc.contributor.authorCox, Aen_US
dc.contributor.authorCross, SSen_US
dc.contributor.authorCzene, Ken_US
dc.contributor.authorDarabi, Hen_US
dc.contributor.authorDevilee, Pen_US
dc.contributor.authorEriksson, Men_US
dc.contributor.authorFasching, PAen_US
dc.contributor.authorFigueroa, Jen_US
dc.contributor.authorFlyger, Hen_US
dc.contributor.authorFostira, Fen_US
dc.contributor.authorGarcía-Closas, Men_US
dc.contributor.authorGiles, GGen_US
dc.contributor.authorGlendon, Gen_US
dc.contributor.authorGonzález-Neira, Aen_US
dc.contributor.authorGuénel, Pen_US
dc.contributor.authorHaiman, CAen_US
dc.contributor.authorHall, Pen_US
dc.contributor.authorHart, SNen_US
dc.contributor.authorHartman, Men_US
dc.contributor.authorHooning, MJen_US
dc.contributor.authorHsiung, CNen_US
dc.contributor.authorIto, Hen_US
dc.contributor.authorJakubowska, Aen_US
dc.contributor.authorJames, PAen_US
dc.contributor.authorJohn, EMen_US
dc.contributor.authorJohnson, Nen_US
dc.contributor.authorJones, Men_US
dc.contributor.authorKabisch, Men_US
dc.contributor.authorKang, Den_US
dc.contributor.authorKosma, VMen_US
dc.contributor.authorKristensen, Ven_US
dc.contributor.authorLambrechts, Den_US
dc.contributor.authorLi, Nen_US
dc.contributor.authorLindblom, Aen_US
dc.contributor.authorLong, Jen_US
dc.contributor.authorLophatananon, Aen_US
dc.contributor.authorLubinski, Jen_US
dc.contributor.authorMannermaa, Aen_US
dc.contributor.authorManoukian, Sen_US
dc.contributor.authorMargolin, Sen_US
dc.contributor.authorMatsuo, Ken_US
dc.contributor.authorMeindl, Aen_US
dc.contributor.authorMitchell, Gen_US
dc.contributor.authorMuir, Ken_US
dc.contributor.authorNevelsteen, Ien_US
dc.contributor.authorvan den Ouweland, Aen_US
dc.contributor.authorPeterlongo, Pen_US
dc.contributor.authorPhuah, SYen_US
dc.contributor.authorPylkäs, Ken_US
dc.contributor.authorRowley, SMen_US
dc.contributor.authorSangrajrang, Sen_US
dc.contributor.authorSchmutzler, RKen_US
dc.contributor.authorShen, CYen_US
dc.contributor.authorShu, XOen_US
dc.contributor.authorSouthey, MCen_US
dc.contributor.authorSurowy, Hen_US
dc.contributor.authorSwerdlow, Aen_US
dc.contributor.authorTeo, SHen_US
dc.contributor.authorTollenaar, RAen_US
dc.contributor.authorTomlinson, Ien_US
dc.contributor.authorTorres, Den_US
dc.contributor.authorTruong, Ten_US
dc.contributor.authorVachon, Cen_US
dc.contributor.authorVerhoef, Sen_US
dc.contributor.authorWong-Brown, Men_US
dc.contributor.authorZheng, Wen_US
dc.contributor.authorZheng, Yen_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorScott, RJen_US
dc.contributor.authorAndrulis, ILen_US
dc.contributor.authorWu, AHen_US
dc.contributor.authorHopper, JLen_US
dc.contributor.authorCouch, FJen_US
dc.contributor.authorWinqvist, Ren_US
dc.contributor.authorBurwinkel, Ben_US
dc.contributor.authorSawyer, EJen_US
dc.contributor.authorSchmidt, MKen_US
dc.contributor.authorRudolph, Aen_US
dc.contributor.authorDörk, Ten_US
dc.contributor.authorBrauch, Hen_US
dc.contributor.authorHamann, Uen_US
dc.contributor.authorNeuhausen, SLen_US
dc.contributor.authorMilne, RLen_US
dc.contributor.authorFletcher, Oen_US
dc.contributor.authorPharoah, PDen_US
dc.contributor.authorCampbell, IGen_US
dc.contributor.authorDunning, AMen_US
dc.contributor.authorLe Calvez-Kelm, Fen_US
dc.contributor.authorGoldgar, DEen_US
dc.contributor.authorTavtigian, SVen_US
dc.contributor.authorChenevix-Trench, Gen_US
dc.date.accessioned2019-07-05T12:22:05Z
dc.date.issued2016-05en_US
dc.identifier.citationJournal of medical genetics, 2016, 53 (5), pp. 298 - 309en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3283
dc.identifier.eissn1468-6244en_US
dc.identifier.doi10.1136/jmedgenet-2015-103529en_US
dc.description.abstractBRCA1 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.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.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).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.en_US
dc.formatPrint-Electronicen_US
dc.format.extent298 - 309en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_US
dc.subjectAustralian Ovarian Cancer Study Groupen_US
dc.subjectkConFab Investigatorsen_US
dc.subjectLifepool Investigatorsen_US
dc.subjectNBCS Investigatorsen_US
dc.titleNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.en_US
dc.typeJournal Article
dcterms.dateAccepted2015-12-16en_US
rioxxterms.versionofrecord10.1136/jmedgenet-2015-103529en_US
rioxxterms.licenseref.startdate2016-05en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfJournal of medical geneticsen_US
pubs.issue5en_US
pubs.notesNot knownen_US
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.volume53en_US
pubs.embargo.termsNot knownen_US
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSwerdlow, Anthonyen_US
dc.contributor.icrauthorJones, Michaelen_US
dc.contributor.icrauthorFletcher, Oliviaen_US


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