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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorTorres-López, Diana María
dc.creatorRebbeck, Timothy R.
dc.creatorFriebel, Tara M.
dc.creatorFriedman, Eitan
dc.creatorHamann, Ute
dc.creatorHuo, Dezheng
dc.creatorKwong, Ava
dc.creatorOlah, Edith
dc.creatorOlopade, Olufunmilayo I.
dc.creatorSolano, Angela R.
dc.creatorTeo, Soo-Hwang
dc.creatorThomassen, Mads
dc.creatorWeitzel, Jeffrey N.
dc.creatorChan, T. L.
dc.creatorCouch, Fergus J.
dc.creatorGoldgar, David E.
dc.creatorKruse, Torben A.
dc.creatorPalmero, Edenir Inêz
dc.creatorPark, Sue Kyung
dc.creatorvan Rensburg, Elizabeth J.
dc.creatorMcGuffog, Lesley
dc.creatorParsons, Michael T.
dc.creatorLeslie, Goska
dc.creatorAalfs, Cora M.
dc.creatorAbugattas, Julio
dc.creatorAdlard, Julian
dc.creatorAgata, Simona
dc.creatorAittomäki, Kristiina
dc.creatorAndrews, Lesley
dc.creatorAndrulis, Irene L.
dc.creatorArason, Adalgeir
dc.creatorArnold, Norbert
dc.creatorArun, Banu K.
dc.creatorAsseryanis, Ella
dc.creatorAuerbach, Leo
dc.creatorAzzollini, Jacopo
dc.creatorBalmaña, Judith
dc.creatorBarile, Monica
dc.creatorBarkardottir, Rosa B.
dc.creatorBarrowdale, Daniel
dc.creatorBenitez, Javier
dc.creatorBerger, Andreas
dc.creatorBerger, Raanan
dc.creatorBlanco, Amie M.
dc.creatorBlazer, Kathleen R.
dc.creatorBlok, Marinus J.
dc.creatorBonadona, Valérie
dc.creatorBonanni, Bernardo
dc.creatorBradbury, Angela R.
dc.creatorBrewer, Carole
dc.creatorBuecher, Bruno
dc.creatorBuys, Saundra S.
dc.creatorCaldes, Trinidad
dc.creatorCaliebe, Almuth
dc.creatorCaligo, Maria A.
dc.creatorCampbell, Ian
dc.creatorCaputo, Sandrine M.
dc.creatorChiquette, Jocelyne
dc.creatorChung, Wendy K.
dc.creatorClaes, Kathleen B. M.
dc.creatorCollée, J. Margriet
dc.creatorCook, Jackie
dc.creatorDavidson, Rosemarie
dc.creatorde la Hoya, Miguel
dc.creatorDe Leeneer, Kim
dc.creatorTorres-López, Diana María
dc.creatorde Pauw, Antoine
dc.creatorDelnatte, Capucine
dc.creatorDiez, Orland
dc.creatorDing, Yuan Chun
dc.creatorDitsch, Nina
dc.creatorDomchek, Susan M.
dc.creatorDorfling, Cecilia M.
dc.creatorVelazquez, Carolina
dc.creatorDworniczak, Bernd
dc.creatorEason, Jacqueline
dc.creatorEaston, Douglas F.
dc.creatorEeles, Ros
dc.creatorEhrencrona, Hans
dc.creatorEjlertsen, Bent
dc.creatorEngel, Christoph
dc.creatorEngert, Stefanie
dc.creatorEvans, D. Gareth
dc.creatorFaivre, Laurence
dc.creatorFeliubadaló, Lidia
dc.creatorFerrer, Sandra Fert
dc.creatorForetova, Lenka
dc.creatorFowler, Jeffrey
dc.creatorFrost, Debra
dc.creatorGalvão, Henrique C. R.
dc.creatorGanz, Patricia A.
dc.creatorGarber, Judy
dc.creatorGauthier-Villars, Marion
dc.creatorGehrig, Andrea
dc.creatorGerdes, Anne-Marie
dc.creatorGesta, Paul
dc.creatorGiannini, Giuseppe
dc.creatorGiraud, Sophie
dc.creatorGlendon, Gord
dc.creatorGodwin, Andrew K.
dc.creatorGreene, Mark H.
dc.creatorGronwald, Jacek
dc.creatorGutierrez Barrera, Angelica
dc.creatorHahnen, Eric
dc.creatorHauke, Jan
dc.creatorHenderson, Alex
dc.creatorHentschel, Julia
dc.creatorHogervorst, Frans B. L.
dc.creatorHonisch, Ellen
dc.creatorImyanitov, Evgeny N.
dc.creatorIsaacs, Claudine
dc.creatorIzatt, Louise
dc.creatorIzquierdo, Angel
dc.creatorJakubowska, Anna
dc.creatorJames, Paul
dc.creatorJanavicius, Ramunas
dc.creatorJensen, Uffe Birk
dc.creatorJohn, Esther M.
dc.creatorVijai, Joseph
dc.creatorKaczmarek, Katarzyna
dc.creatorKarlan, Beth Y.
dc.creatorKast, Karin
dc.creatorKim, Sung-Won
dc.creatorKonstantopoulou, Irene
dc.creatorKorach, Jacob
dc.creatorLaitman, Yael
dc.creatorLasa, Adriana
dc.creatorLasset, Christine
dc.creatorLázaro, Conxi
dc.creatorLee, Annette
dc.creatorLee, Min Hyuk
dc.creatorLester, Jenny
dc.creatorLesueur, Fabienne
dc.creatorLiljegren, Annelie
dc.creatorLindor, Noralane M.
dc.creatorLongy, Michel
dc.creatorLoud, Jennifer T.
dc.creatorLu, Karen H.
dc.creatorLubinski, Jan
dc.creatorMachackova, Eva
dc.creatorManoukian, Siranoush
dc.creatorMari, Véronique
dc.creatorMartínez-Bouzas, Cristina
dc.creatorMatrai, Zoltan
dc.creatorMebirouk, Noura
dc.creatorMeijers Heijboer, Hanne E. J.
dc.creatorMeindl, Alfons
dc.creatorMensenkamp, Arjen R.
dc.creatorMickys, Ugnius
dc.creatorMiller, Austin
dc.creatorMontagna, Marco
dc.creatorMoysich, Kirsten B.
dc.creatorMulligan, Anna Marie
dc.creatorMusinsky, Jacob
dc.creatorNeuhausen, Susan L.
dc.creatorNevanlinna, Heli
dc.creatorNgeow, Joanne
dc.creatorNguyen, Huu Phuc
dc.creatorNiederacher, Dieter
dc.creatorNielsen, Henriette Roed
dc.creatorNielsen, Finn Cilius
dc.creatorNussbaum, Robert L.
dc.creatorOffit, Kenneth
dc.creatorÖfverholm, Anna
dc.creatorOng, Kai-ren
dc.creatorOsorio, Ana
dc.creatorPapi, Laura
dc.creatorPapp, Janos
dc.creatorPasini, Barbara
dc.creatorPedersen, Inge Sokilde
dc.creatorPeixoto, Ana
dc.creatorPeruga, Nina
dc.creatorPeterlongo, Paolo
dc.creatorPohl, Esther
dc.creatorPradhan, Nisha
dc.creatorPrajzendanc, Karolina
dc.creatorPrieur, Fabienne
dc.creatorPujol, Pascal
dc.creatorRadice, Paolo
dc.creatorRamus, Susan J.
dc.creatorRantala, Johanna
dc.creatorRashid, Muhammad Usman
dc.creatorRhiem, Kerstin
dc.creatorRobson, Mark
dc.creatorRodriguez, Gustavo C.
dc.creatorRogers, Mark T.
dc.creatorRudaitis, Vilius
dc.creatorSchmidt, Ane Y.
dc.creatorSchmutzler, Rita Katharina
dc.creatorSenter, Leigha
dc.creatorShah, Payal D.
dc.creatorSharma, Priyanka
dc.creatorSide, Lucy E.
dc.creatorSimard, Jacques
dc.creatorSinger, Christian F.
dc.creatorSkytte, Anne-Bine
dc.creatorSlavin, Thomas P.
dc.creatorSnape, Katie
dc.creatorSobol, Hagay
dc.creatorSouthey, Melissa
dc.creatorSteele, Linda
dc.creatorSteinemann, Doris
dc.creatorSukiennicki, Grzegorz
dc.creatorSutter, Christian
dc.creatorSzabo, Csilla I.
dc.creatorTan, Yen Y.
dc.creatorTeixeira, Manuel R.
dc.creatorTerry, Mary Beth
dc.creatorTeulé, Alex
dc.creatorThomas, Abigail
dc.creatorThull, Darcy L.
dc.creatorTischkowitz, Marc
dc.creatorTognazzo, Silvia
dc.creatorToland, Amanda Ewart
dc.creatorTopka, Sabine
dc.creatorTrainer, Alison H.
dc.creatorTung, Nadine
dc.creatorvan Asperen, Christi J.
dc.creatorvan der Hout, Annemieke H.
dc.creatorvan der Kolk, Lizet E.
dc.creatorvan der Luijt, Rob B.
dc.creatorVan Heetvelde, Mattias
dc.creatorVaresco, Liliana
dc.creatorVaron-Mateeva, Raymonda
dc.creatorVega, Ana
dc.creatorVillarreal-Garza, Cynthia
dc.creatorvon Wachenfeldt, Anna
dc.creatorWalker, Lisa
dc.creatorWang-Gohrke, Shan
dc.creatorWappenschmidt, Barbara
dc.creatorWeber, Bernhard H. F.
dc.creatorYannoukakos, Drakoulis
dc.creatorYoon, Sook-Yee
dc.creatorZanzottera, Cristina
dc.creatorZidan, Jamal
dc.creatorZorn, Kristin K.
dc.creatorHutten Selkirk, Christina G.
dc.creatorHulick, Peter J.
dc.creatorChenevix Trench, Georgia
dc.creatorSpurdle, Amanda B.
dc.creatorAntoniou, Antonis C.
dc.creatorNathanson, Katherine L.
dc.creatorEMBRACE
dc.creatorGEMO Study Collaborators
dc.creatorHEBON
dc.creatorKConFab Investigators
dc.date2020-03-11T16:38:51Z
dc.date2020-04-15T13:32:57Z
dc.date2020-03-11T16:38:51Z
dc.date2020-04-15T13:32:57Z
dc.date2018-02-15
dc.date.accessioned2025-10-30T14:04:06Z
dc.date.available2025-10-30T14:04:06Z
dc.identifierhttps://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23406
dc.identifier1059-7794 / 1098-1004 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47568
dc.identifierhttps://doi.org/10.1002/humu.23406
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/193364
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionArtículo especial
dc.description593 - 620
dc.descriptionMujeres
dc.descriptionThe 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.
dc.descriptionhttps://orcid.org/0000-0002-9879-9775
dc.descriptionRevista Internacional - Indexada
dc.descriptionA1
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languageeng
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceHuman Mutation; Volumen 39 Número 5 (2018)
dc.subjectBRCA1
dc.subjectBRCA2
dc.subjectBreast cancer
dc.subjectEthnicity
dc.subjectGeography
dc.subjectMutation
dc.subjectOvarian cancer
dc.titleMutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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