Browsing by Author "Lesueur, Fabienne"
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, EdithOlopade, Olufunmilayo ISolano, Angela RTeo, Soo-HwangThomassen, MadsWeitzel, Jeffrey NChan, TLCouch, Fergus JGoldgar, David EKruse, Torben APalmero, Edenir InêzPark, Sue KyungTorres, Dianavan Rensburg, Elizabeth JMcGuffog, LesleyParsons, Michael TLeslie, GoskaAalfs, Cora MAbugattas, JulioAdlard, JulianAgata, SimonaAittomäki, KristiinaAndrews, LesleyAndrulis, Irene LArason, AdalgeirArnold, NorbertArun, Banu KAsseryanis, EllaAuerbach, LeoAzzollini, JacopoBalmaña, JudithBarile, MonicaBarkardottir, Rosa BBarrowdale, DanielBenitez, JavierBerger, AndreasBerger, RaananBlanco, Amie MBlazer, Kathleen RBlok, Marinus JBonadona, ValérieBonanni, BernardoBradbury, Angela RBrewer, CaroleBuecher, BrunoBuys, Saundra SCaldes, TrinidadCaliebe, AlmuthCaligo, Maria ACampbell, IanCaputo, Sandrine MChiquette, JocelyneChung, Wendy KClaes, Kathleen BMCollée, J MargrietCook, JackieDavidson, Rosemariede la Hoya, MiguelDe Leeneer, Kimde Pauw, AntoineDelnatte, CapucineDiez, OrlandDing, Yuan ChunDitsch, NinaDomchek, Susan MDorfling, Cecilia MVelazquez, CarolinaDworniczak, BerndEason, JacquelineEaston, Douglas FrederickEeles, RosEhrencrona, HansEjlertsen, BentEMBRACE,Engel, ChristophEngert, StefanieEvans, D GarethFaivre, LaurenceFeliubadaló, LidiaFerrer, Sandra FertForetova, LenkaFowler, JeffreyFrost, DebraGalvão, Henrique CRGanz, Patricia AGarber, JudyGauthier-Villars, MarionGehrig, AndreaGEMO Study Collaborators,Gerdes, Anne-MarieGesta, PaulGiannini, GiuseppeGiraud, SophieGlendon, GordGodwin, Andrew KGreene, Mark HGronwald, JacekGutierrez-Barrera, AngelicaHahnen, EricHauke, JanHEBON,Henderson, AlexHentschel, JuliaHogervorst, Frans BLHonisch, EllenImyanitov, Evgeny NIsaacs, ClaudineIzatt, LouiseIzquierdo, AngelJakubowska, AnnaJames, PaulJanavicius, RamunasJensen, Uffe BirkJohn, Esther MVijai, JosephKaczmarek, KatarzynaKarlan, Beth YKast, KarinInvestigators, KConFabKim, Sung-WonKonstantopoulou, IreneKorach, JacobLaitman, YaelLasa, AdrianaLasset, ChristineLázaro, ConxiLee, Andrew JohnLee, Min HyukLester, JennyLesueur, FabienneLiljegren, AnnelieLindor, Noralane MLongy, MichelLoud, Jennifer TLu, Karen HLubinski, JanMachackova, EvaManoukian, SiranoushMari, VéroniqueMartínez-Bouzas, CristinaMatrai, ZoltanMebirouk, NouraMeijers-Heijboer, Hanne EJMeindl, AlfonsMensenkamp, Arjen RMickys, UgniusMiller, AustinMontagna, MarcoMoysich, Kirsten BMulligan, Anna MarieMusinsky, JacobNeuhausen, Susan LNevanlinna, HeliNgeow, JoanneNguyen, Huu PhucNiederacher, DieterNielsen, Henriette RoedNielsen, Finn CiliusNussbaum, Robert LOffit, KennethÖfverholm, AnnaOng, Kai-RenOsorio, AnaPapi, LauraPapp, JanosPasini, BarbaraPedersen, Inge SokildePeixoto, AnaPeruga, NinaPeterlongo, PaoloPohl, EstherPradhan, NishaPrajzendanc, KarolinaPrieur, FabiennePujol, PascalRadice, PaoloRamus, Susan JRantala, JohannaRashid, Muhammad UsmanRhiem, KerstinRobson, MarkRodriguez, Gustavo CRogers, Mark TRudaitis, ViliusSchmidt, Ane YSchmutzler, Rita KatharinaSenter, LeighaShah, Payal DSharma, PriyankaSide, Lucy ESimard, JacquesSinger, Christian FSkytte, Anne-BineSlavin, Thomas PSnape, KatieSobol, HagaySouthey, MelissaSteele, LindaSteinemann, DorisSukiennicki, GrzegorzSutter, ChristianSzabo, Csilla ITan, Yen YTeixeira, Manuel RTerry, Mary BethTeulé, AlexThomas, AbigailThull, Darcy LTischkowitz, Marc DerekTognazzo, SilviaToland, Amanda EwartTopka, SabineTrainer, Alison HTung, Nadinevan Asperen, Christi Jvan der Hout, Annemieke Hvan der Kolk, Lizet Evan der Luijt, Rob BVan Heetvelde, MattiasVaresco, LilianaVaron-Mateeva, RaymondaVega, AnaVillarreal-Garza, Cynthiavon Wachenfeldt, AnnaWalker, LisaWang-Gohrke, ShanWappenschmidt, BarbaraWeber, Bernhard HFYannoukakos, DrakoulisYoon, Sook-YeeZanzottera, CristinaZidan, JamalZorn, Kristin KHutten Selkirk, Christina GHulick, Peter JChenevix-Trench, GeorgiaSpurdle, Amanda BAntoniou, AntonisNathanson, Katherine L et al. (Wiley-Blackwell, 2018-05)The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators ... -
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Easton, Douglas Frederick; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; Luccarini, CraigPooley, Karen AnneShah, Mitulkumar NandlalBolla, Manjeet KWang, QinDennis, JoeAhmad, JamilThompson, Ella RDamiola, FrancescaPertesi, MaroulioVoegele, CatherineMebirouk, NouraRobinot, NivonirinaDurand, GeoffroyForey, NathalieLuben, RobertAhmed, ShahanaAittomäki, KristiinaAnton-Culver, HodaArndt, VolkerAustralian, Ovarian Cancer Study GroupBaynes, CarolineBeckman, Matthias WBenitez, JavierVan, Den Berg DavidBlot, William JBogdanova, Natalia VBojesen, Stig EBrenner, HermannChang-Claude, JennyChia, Kee SengChoi, Ji-YeobConroy, Don MCox, AngelaCross, Simon SCzene, KamilaDarabi, HatefDevilee, PeterEriksson, MikaelFasching, Peter AFigueroa, JonineFlyger, HenrikFostira, FlorentiaGarcía-Closas, MontserratGiles, Graham GGlendon, GordGonzález-Neira, AnnaGuénel, PascalHaiman, Christopher AHall, PerHart, Steven NHartman, MikaelHooning, Maartje JHsiung, Chia-NiIto, HidemiJakubowska, AnnaJames, Paul AJohn, Esther MJohnson, NicholaJones, MichaelKabisch, MariaKang, DaeheekConFab, InvestigatorsKosma, Veli-MattiKristensen, VesselaLambrechts, DietherLi, NaLifepool, InvestigatorsLindblom, AnnikaLong, JirongLophatananon, ArtitayaLubinski, JanMannermaa, ArtoManoukian, SiranoushMargolin, SaraMatsuo, KeitaroMeindl, AlfonsMitchell, GillianMuir, KennethNBCS, InvestigatorsNevelsteen, Inesvan, den Ouweland AnsPeterlongo, PaoloPhuah, Sze YeePylkäs, KatriRowley, Simone MSangrajrang, SuleepornSchmutzler, Rita KShen, Chen-YangShu, Xiao-OuSouthey, Melissa CSurowy, HaraldSwerdlow, AnthonyTeo, Soo HTollenaar, Rob AEMTomlinson, IanTorres, DianaTruong, ThérèseVachon, CelineVerhoef, SennoWong-Brown, MichelleZheng, WeiZheng, YingNevanlinna, HeliScott, Rodney JAndrulis, Irene LWu, Anna HHopper, John LCouch, Fergus JWinqvist, RobertBurwinkel, BarbaraSawyer, Elinor JSchmidt, Marjanka KRudolph, AnjaDörk, ThiloBrauch, HiltrudHamann, UteNeuhausen, Susan LMilne, Roger LFletcher, OliviaPharoah, Paul DavidCampbell, Ian GDunning, Alison MargaretLe, Calvez-Kelm FlorenceGoldgar, David ETavtigian, Sean VChenevix-Trench, Georgia et al. (BMJ Group, 2016-02-26)Background 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 ...