Rebbeck, Timothy R.Friebel, Tara M.Friedman, EitanHamann, UteHuo, DezhengKwong, AvaOlah, EdithOlopade, Olufunmilayo I.Solano, Angela R.Teo, Soo-HwangThomassen, MadsWeitzel, Jeffrey N.Chan, T.L.Couch, Fergus J.Goldgar, David E.Kruse, Torben A.Palmero, Edenir InêzPark, Sue KyungTorres, DianaJansen van Rensburg, ElizabethMcGuffog, LesleyParsons, Michael T.Leslie, GoskaAalfs, Cora M.Abugattas, JulioAdlard, JulianAgata, SimonaAittomäki, KristiinaAndrews, LesleyAndrulis, Irene L.Arason, AdalgeirArnold, NorbertArun, Banu K.Asseryanis, EllaAuerbach, LeoAzzollini, JacopoBalmaña, JudithBarile, MonicaBarkardottir, Rosa B.Barrowdale, DanielBenitez, JavierBerger, AndreasBerger, RaananBlanco, Amie M.Blazer, Kathleen R.Blok, Marinus J.Bonadona, ValérieBonanni, BernardoBradbury, Angela R.Brewer, CaroleBuecher, BrunoBuys, Saundra S.Caldes, TrinidadCaliebe, AlmuthCaligo, Maria A.Campbell, IanCaputo, Sandrine M.Chiquette, JocelyneChung, Wendy K.Claes, Kathleen B.Collée, J. MargrietCook, JackieDavidson, RosemarieDe la Hoya, MiguelDe Leeneer, KimDe Pauw, AntoineDelnatte, CapucineDiez, OrlandDing, Yuan ChunDitsch, NinaDomchek, Susan M.Dorfling, Cecilia MariaVelazquez, CarolinaDworniczak, BerndEason, JacquelineEaston, Douglas F.Eeles, RosEhrencrona, HansEjlertsen, BentEMBRACEEngel, ChristophEngert, StefanieEvans, D. GarethFaivre, LaurenceFeliubadaló, LidiaFerrer, Sandra FertForetova, LenkaFowler, JeffreyFrost, DebraGalvão, Henrique C.R.Ganz, Patricia A.Garber, JudyGauthier-Villars, MarionGehrig, AndreaGEMO Study CollaboratorsGerdes, Anne-MarieGesta, PaulGiannini, GiuseppeGiraud, SophieGlendon, GordGodwin, Andrew K.Greene, Mark H.Gronwald, JacekGutierrez-Barrera, AngelicaHahnen, EricHauke, JanHEBONHenderson, AlexHentschel, JuliaHogervorst, Frans B.L.Honisch, EllenImyanitov, Evgeny N.Isaacs, ClaudineIzatt, LouiseIzquierdo, AngelJakubowska, AnnaJames, PaulJanavicius, RamunasJensen, Uffe BirkJohn, Esther M.Vijai, JosephKaczmarek, KatarzynaKarlan, Beth Y.Kast, KarinKConFab InvestigatorsKim, Sung-WonKonstantopoulou, IreneKorach, JacobLaitman, YaelLasa, AdrianaLasset, ChristineLazaro, ConxiLee, AnnetteLee, Min HyukLester, JennyLesueur, FabienneLiljegren, AnnelieLindor, Noralane M.Longy, MichelLoud, Jennifer T.Lu, Karen H.Lubinski, JanMachackova, EvaManoukian, SiranoushMari, VéroniqueMartinez-Bouzas, CristinaMatrai, ZoltanMebirouk, NouraMeijers-Heijboer, Hanne E.J.Meindl, AlfonsMensenkamp, Arjen R.Mickys, UgniusMiller, AustinMontagna, MarcoMoysich, Kirsten B.Mulligan, Anna MarieMusinsky, JacobNeuhausen, Susan L.Nevanlinna, HeliNgeow, JoanneNguyen, Huu PhucNiederacher, DieterNielsen, Henriette RoedNielsen, Finn CiliusNussbaum, Robert L.Offit, KennethOfverholm, AnnaOng, Kai-renOsorio, AnaPapi, LauraPapp, JanosPasini, BarbaraPedersen, Inge SokildePeixoto, AnaPeruga, NinaPeterlongo, PaoloPohl, EstherPradhan, NishaPrajzendanc, KarolinaPrieur, FabiennePujol, PascalRadice, PaoloRamus, Susan J.Rantala, JohannaRashid, Muhammad UsmanRhiem, KerstinRobson, MarkRodriguez, Gustavo C.Rogers, Mark T.Rudaitis, ViliusSchmidt, Ane Y.Schmutzler, Rita KatharinaSenter, LeighaShah, Payal D.Sharma, PriyankaSide, Lucy E.Simard, JacquesSinger, Christian F.Skytte, Anne-BineSlavin, Thomas P.Snape, KatieSobol, HagaySouthey, MelissaSteele, LindaSteinemann, DorisSukiennicki, GrzegorzSutter, ChristianSzabo, Csilla I.Tan, Yen Y.Teixeira, Manuel R.Terry, Mary BethTeule, AlexThomas, AbigailThull, Darcy L.Tischkowitz, MarcTognazzo, SilviaToland, Amanda EwartTopka, SabineTrainer, Alison H.Tung, NadineVan Asperen, Christi J.Van der Hout, Annemieke H.Van der Kolk, Lizet E.Van der Luijt, Rob B.Van Heetvelde, MattiasVaresco, LilianaVaron-Mateeva, RaymondaVega, AnaVillarreal-Garza, CynthiaVon Wachenfeldt, AnnaWalker, LisaWang-Gohrke, ShanWappenschmidt, BarbaraWeber, Bernhard H.F.Yannoukakos, DrakoulisYoon, Sook-YeeZanzottera, CristinaZidan, JamalZorn, Kristin K.Hutten Selkirk, Christina G.Hulick, Peter J.Chenevix-Trench, GeorgiaSpurdle, Amanda B.Antoniou, Antonis C.Nathanson, Katherine L.2018-10-292018-05Rebbeck TR, Friebel TM, Friedman E, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation. 2018;39:593–620. https://doi.org/10.1002/humu.23406.1059-7794 (print)1098-1004 (online)10.1002/humu.23406http://hdl.handle.net/2263/67087Supplementary Table 1: Mutations in BRCA1 or BRCA2 by country, race/ethnicity, and mutation characteristics.Supplementary Table 2: Mutation frequency by country and ethnicity. AA: African American, AJ: Ashkenazi JewishThe prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease‐associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population‐specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad‐based oncogenetic testing in some populations.en© 2018 Wiley Periodicals, Inc. This is the pre-peer reviewed version of the following article : Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation. 2018;39:593–620, doi : 10.1002/humu.23406. The definite version is available at : http://wileyonlinelibrary.com/journal/humu.BRCA1BRCA2Breast cancerEthnicityGeographyMutationOvarian cancerProstate cancer185delAG mutationHereditary breast cancerHaplotype studiesFounder mutationsGermline mutationsOvarian cancerHispanicsPostprint Article