Coignard, JulietteLush, MichaelBeesley, JonathanO'Mara, Tracy ADennis, JoeTyrer, Jonathan PBarnes, Daniel RMcGuffog, LesleyLeslie, GoskaBolla, Manjeet KAdank, Muriel AAgata, SimonaAhearn, ThomasAittomäki, KristiinaAndrulis, Irene LAnton-Culver, HodaArndt, VolkerArnold, NorbertAronson, Kristan JArun, Banu KAugustinsson, AnnelieAzzollini, JacopoBarrowdale, DanielBaynes, CarolineBecher, HeikoBermisheva, MarinaBernstein, LeslieBiałkowska, KatarzynaBlomqvist, CarlBojesen, Stig EBonanni, BernardoBorg, AkeBrauch, HiltrudBrenner, HermannBurwinkel, BarbaraBuys, Saundra SCaldés, TrinidadCaligo, Maria ACampa, DanieleCarter, Brian DCastelao, Jose EChang-Claude, JennyChanock, Stephen JChung, Wendy KClaes, Kathleen B MClarke, Christine LCollée, J MargrietConroy, Don MCzene, KamilaDaly, Mary BDevilee, PeterDiez, OrlandDing, Yuan ChunDomchek, Susan MDörk, ThiloDos-Santos-Silva, IsabelDunning, Alison MDwek, MiriamEccles, Diana MEliassen, A HeatherEngel, ChristophEriksson, MikaelEvans, D GarethFasching, Peter AFlyger, HenrikFostira, FlorentiaFriedman, EitanFritschi, LinFrost, DebraGago-Dominguez, ManuelaGapstur, Susan MGarber, JudyGarcia-Barberan, VanesaGarcía-Closas, MontserratGarcía-Sáenz, José AGaudet, Mia MGayther, Simon AGehrig, AndreaGeorgoulias, VassiliosGiles, Graham GGodwin, Andrew KGoldberg, Mark SGoldgar, David EGonzalez Neira, AnnaGreene, Mark HGuénel, PascalHaeberle, LotharHahnen, EricHaiman, Christopher AHåkansson, NiclasHall, PerHamann, UteHarrington, Patricia AHart, Steven NHe, WeiHogervorst, Frans B LHollestelle, AntoinetteHopper, John LHorcasitas, Darling JHulick, Peter JHunter, David JImyanitov, Evgeny NJager, AgnesJakubowska, AnnaJames, Paul AJensen, Uffe BirkJohn, Esther MJones, Michael EKaaks, RudolfKapoor, Pooja MiddhaKarlan, Beth YKeeman, RenskeKhusnutdinova, ElzaKiiski, Johanna IKo, Yon-DschunKosma, Veli-MattiKraft, PeterKurian, Allison WLaitman, YaelLambrechts, DietherLe Marchand, LoicLester, JennyLesueur, FabienneLindstrom, TriciaLopez-Fernández, AdriaLoud, Jennifer TLuccarini, CraigMannermaa, ArtoManoukian, SiranoushMargolin, SaraMartens, John W MMebirouk, NouraMeindl, AlfonsMiller, AustinMilne, Roger LMontagna, MarcoNathanson, Katherine LNeuhausen, Susan LNevanlinna, HeliNielsen, Finn CO'Brien, Katie MOlopade, Olufunmilayo IOlson, Janet EOlsson, HåkanOsorio, AnaOttini, LauraPark-Simon, Tjoung-WonParsons, Michael TPedersen, Inge SokildePeshkin, BethPeterlongo, PaoloPeto, JulianPharoah, Paul D PPhillips, Kelly-AnnePolley, Eric CPoppe, BrucePresneau, NadegePujana, Miquel AngelPunie, KevinRadice, PaoloRantala, JohannaRashid, Muhammad URennert, GadRennert, Hedy SRobson, MarkRomero, AtochaRossing, MariaSaloustros, EmmanouilSandler, Dale PSantella, ReginaScheuner, Maren TSchmidt, Marjanka KSchmidt, GunnarScott, ChristopherSharma, PriyankaSoucy, PennySouthey, Melissa CSpinelli, John JSteinsnyder, ZoeStone, JenniferStoppa-Lyonnet, DominiqueSwerdlow, AnthonyTamimi, Rulla MTapper, William JTaylor, Jack ATerry, Mary BethTeulé, AlexThull, Darcy LTischkowitz, MarcToland, Amanda ETorres, DianaTrainer, Alison HTruong, ThérèseTung, NadineVachon, Celine MVega, AnaVijai, JosephWang, QinWappenschmidt, BarbaraWeinberg, Clarice RWendt, CamillaWeitzel, Jeffrey NWolk, AlicjaYadav, SiddharthaYang, Xiaohong RYannoukakos, DrakoulisZheng, WeiZiogas, ArgyriosZorn, Kristin KPark, Sue KThomassen, MadsOffit, KennethSchmutzler, Rita KCouch, Fergus JSimard, JacquesChenevix-Trench, GeorgiaEaston, Douglas FAndrieu, NadineAntoniou, Antonis C2021-07-082021-07-082021-02-17Nat Commun. 2021;12(1):1078.http://hdl.handle.net/20.500.12105/13240Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.engVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/Polymorphism, Single NucleotideAdultAllelesBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMiddle AgedMutationQuantitative Trait LociRisk FactorsAtribución-NoComercial-CompartirIgual 4.0 Internacional33597508121107810.1038/s41467-020-20496-32041-1723Nature communicationsopen access