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

TitleMutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Authors
Rebbeck, TRFriebel, TMFriedman, EHamann, UHuo, DKwong, AOlah, EOlopade, OISolano, ARTeo, SHThomassen, MWeitzel, JNChan, TLCouch, FJGoldgar, DEKruse, TAPalmero, EIPark, SKTorres, Dvan Rensburg, EJMcGuffog, LParsons, MTLeslie, GAalfs, CMAbugattas, JAdlard, JAgata, SAittomäki, KAndrews, LAndrulis, ILArason, AArnold, NArun, BKAsseryanis, EAuerbach, LAzzollini, JBalmaña, JBarile, MBarkardottir, RBBarrowdale, DBenitez, JBerger, ABerger, RBlanco, AMBlazer, KRBlok, MJBonadona, VBonanni, BBradbury, ARBrewer, CBuecher, BBuys, SSCaldes, TCaliebe, ACaligo, MACampbell, ICaputo, SMChiquette, JChung, WKClaes, KBMCollée, JMCook, JDavidson, Rde la Hoya, MDe Leeneer, Kde Pauw, ADelnatte, CDiez, ODing, YCDitsch, NDomchek, SMDorfling, CMVelazquez, CDworniczak, BEason, JEaston, DFEeles, REhrencrona, HEjlertsen, BEngel, CEngert, SEvans, DGFaivre, LFeliubadaló, LFerrer, SFForetova, LFowler, JFrost, DGalvão, HCRGanz, PAGarber, JGauthier-Villars, MGehrig, AGerdes, AMGesta, PGiannini, GGiraud, SGlendon, GGodwin, AKGreene, MHGronwald, JGutierrez-Barrera, AHahnen, EHauke, JHenderson, AHentschel, JHogervorst, FBLHonisch, EImyanitov, ENIsaacs, CIzatt, LIzquierdo, AJakubowska, AJames, PJanavicius, RJensen, UBJohn, EMVijai, JKaczmarek, KKarlan, BYKast, KInvestigators, KKim, SWKonstantopoulou, IKorach, JLaitman, YLasa, ALasset, CLázaro, CLee, ALee, MHLester, JLesueur, FLiljegren, ALindor, NMLongy, MLoud, JTLu, KHLubinski, JMachackova, EManoukian, SMari, VMartínez-Bouzas, CMatrai, ZMebirouk, NMeijers-Heijboer, HEJMeindl, AMensenkamp, ARMickys, UMiller, AMontagna, MMoysich, KBMulligan, AMMusinsky, JNeuhausen, SLNevanlinna, HNgeow, JNguyen, HPNiederacher, DNielsen, HRNielsen, FCNussbaum, RLOffit, KÖfverholm, AOng, KROsorio, APapi, LPapp, JPasini, BPedersen, ISPeixoto, APeruga, NPeterlongo, PPohl, EPradhan, NPrajzendanc, KPrieur, FPujol, PRadice, PRamus, SJRantala, JRashid, MURhiem, KRobson, MRodriguez, GCRogers, MTRudaitis, VSchmidt, AYSchmutzler, RKSenter, LShah, PDSharma, PSide, LESimard, JSinger, DFSkytte, ABSlavin, TPSnape, KSobol, HSouthey, MSteele, LSteinemann, DSukiennicki, GSutter, GSzabo, CITan, YYTeixeira, MRTerry, MBTeu, AThomas, AThull, DLTischkowitz, MTognazzo, SToland, AETopka, STrainer, AHTung, Nvan Asperen, CJvan der Hout, AHvan der Kolk, LEvan der Luijt, RBVanHeetvelde, MVaresco, LVaron-Mateeva, RVega, AVillarreal-Garza, Cvon Wachenfeldt, AWalker, LWang-Gohrke, SWappenschmidt, BWeber, BHFYannoukakos, DYoon, SYZanzottera, CZidan, JZorn, KKHutten Selkirk, CGHulick, PJChenevix-Trench, GSpurdle, ABAntoniou, ACNathanson, KL
Issue Date2018
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2018, v. 39, p. 593-620 How to Cite?
AbstractThe 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.
Persistent Identifierhttp://hdl.handle.net/10722/258746
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
PubMed Central ID

 

DC FieldValueLanguage
dc.contributor.authorRebbeck, TR-
dc.contributor.authorFriebel, TM-
dc.contributor.authorFriedman, E-
dc.contributor.authorHamann, U-
dc.contributor.authorHuo, D-
dc.contributor.authorKwong, A-
dc.contributor.authorOlah, E-
dc.contributor.authorOlopade, OI-
dc.contributor.authorSolano, AR-
dc.contributor.authorTeo, SH-
dc.contributor.authorThomassen, M-
dc.contributor.authorWeitzel, JN-
dc.contributor.authorChan, TL-
dc.contributor.authorCouch, FJ-
dc.contributor.authorGoldgar, DE-
dc.contributor.authorKruse, TA-
dc.contributor.authorPalmero, EI-
dc.contributor.authorPark, SK-
dc.contributor.authorTorres, D-
dc.contributor.authorvan Rensburg, EJ-
dc.contributor.authorMcGuffog, L-
dc.contributor.authorParsons, MT-
dc.contributor.authorLeslie, G-
dc.contributor.authorAalfs, CM-
dc.contributor.authorAbugattas, J-
dc.contributor.authorAdlard, J-
dc.contributor.authorAgata, S-
dc.contributor.authorAittomäki, K-
dc.contributor.authorAndrews, L-
dc.contributor.authorAndrulis, IL-
dc.contributor.authorArason, A-
dc.contributor.authorArnold, N-
dc.contributor.authorArun, BK-
dc.contributor.authorAsseryanis, E-
dc.contributor.authorAuerbach, L-
dc.contributor.authorAzzollini, J-
dc.contributor.authorBalmaña, J-
dc.contributor.authorBarile, M-
dc.contributor.authorBarkardottir, RB-
dc.contributor.authorBarrowdale, D-
dc.contributor.authorBenitez, J-
dc.contributor.authorBerger, A-
dc.contributor.authorBerger, R-
dc.contributor.authorBlanco, AM-
dc.contributor.authorBlazer, KR-
dc.contributor.authorBlok, MJ-
dc.contributor.authorBonadona, V-
dc.contributor.authorBonanni, B-
dc.contributor.authorBradbury, AR-
dc.contributor.authorBrewer, C-
dc.contributor.authorBuecher, B-
dc.contributor.authorBuys, SS-
dc.contributor.authorCaldes, T-
dc.contributor.authorCaliebe, A-
dc.contributor.authorCaligo, MA-
dc.contributor.authorCampbell, I-
dc.contributor.authorCaputo, SM-
dc.contributor.authorChiquette, J-
dc.contributor.authorChung, WK-
dc.contributor.authorClaes, KBM-
dc.contributor.authorCollée, JM-
dc.contributor.authorCook, J-
dc.contributor.authorDavidson, R-
dc.contributor.authorde la Hoya, M-
dc.contributor.authorDe Leeneer, K-
dc.contributor.authorde Pauw, A-
dc.contributor.authorDelnatte, C-
dc.contributor.authorDiez, O-
dc.contributor.authorDing, YC-
dc.contributor.authorDitsch, N-
dc.contributor.authorDomchek, SM-
dc.contributor.authorDorfling, CM-
dc.contributor.authorVelazquez, C-
dc.contributor.authorDworniczak, B-
dc.contributor.authorEason, J-
dc.contributor.authorEaston, DF-
dc.contributor.authorEeles, R-
dc.contributor.authorEhrencrona, H-
dc.contributor.authorEjlertsen, B-
dc.contributor.authorEngel, C-
dc.contributor.authorEngert, S-
dc.contributor.authorEvans, DG-
dc.contributor.authorFaivre, L-
dc.contributor.authorFeliubadaló, L-
dc.contributor.authorFerrer, SF-
dc.contributor.authorForetova, L-
dc.contributor.authorFowler, J-
dc.contributor.authorFrost, D-
dc.contributor.authorGalvão, HCR-
dc.contributor.authorGanz, PA-
dc.contributor.authorGarber, J-
dc.contributor.authorGauthier-Villars, M-
dc.contributor.authorGehrig, A-
dc.contributor.authorGerdes, AM-
dc.contributor.authorGesta, P-
dc.contributor.authorGiannini, G-
dc.contributor.authorGiraud, S-
dc.contributor.authorGlendon, G-
dc.contributor.authorGodwin, AK-
dc.contributor.authorGreene, MH-
dc.contributor.authorGronwald, J-
dc.contributor.authorGutierrez-Barrera, A-
dc.contributor.authorHahnen, E-
dc.contributor.authorHauke, J-
dc.contributor.authorHenderson, A-
dc.contributor.authorHentschel, J-
dc.contributor.authorHogervorst, FBL-
dc.contributor.authorHonisch, E-
dc.contributor.authorImyanitov, EN-
dc.contributor.authorIsaacs, C-
dc.contributor.authorIzatt, L-
dc.contributor.authorIzquierdo, A-
dc.contributor.authorJakubowska, A-
dc.contributor.authorJames, P-
dc.contributor.authorJanavicius, R-
dc.contributor.authorJensen, UB-
dc.contributor.authorJohn, EM-
dc.contributor.authorVijai, J-
dc.contributor.authorKaczmarek, K-
dc.contributor.authorKarlan, BY-
dc.contributor.authorKast, K-
dc.contributor.authorInvestigators, K-
dc.contributor.authorKim, SW-
dc.contributor.authorKonstantopoulou, I-
dc.contributor.authorKorach, J-
dc.contributor.authorLaitman, Y-
dc.contributor.authorLasa, A-
dc.contributor.authorLasset, C-
dc.contributor.authorLázaro, C-
dc.contributor.authorLee, A-
dc.contributor.authorLee, MH-
dc.contributor.authorLester, J-
dc.contributor.authorLesueur, F-
dc.contributor.authorLiljegren, A-
dc.contributor.authorLindor, NM-
dc.contributor.authorLongy, M-
dc.contributor.authorLoud, JT-
dc.contributor.authorLu, KH-
dc.contributor.authorLubinski, J-
dc.contributor.authorMachackova, E-
dc.contributor.authorManoukian, S-
dc.contributor.authorMari, V-
dc.contributor.authorMartínez-Bouzas, C-
dc.contributor.authorMatrai, Z-
dc.contributor.authorMebirouk, N-
dc.contributor.authorMeijers-Heijboer, HEJ-
dc.contributor.authorMeindl, A-
dc.contributor.authorMensenkamp, AR-
dc.contributor.authorMickys, U-
dc.contributor.authorMiller, A-
dc.contributor.authorMontagna, M-
dc.contributor.authorMoysich, KB-
dc.contributor.authorMulligan, AM-
dc.contributor.authorMusinsky, J-
dc.contributor.authorNeuhausen, SL-
dc.contributor.authorNevanlinna, H-
dc.contributor.authorNgeow, J-
dc.contributor.authorNguyen, HP-
dc.contributor.authorNiederacher, D-
dc.contributor.authorNielsen, HR-
dc.contributor.authorNielsen, FC-
dc.contributor.authorNussbaum, RL-
dc.contributor.authorOffit, K-
dc.contributor.authorÖfverholm, A-
dc.contributor.authorOng, KR-
dc.contributor.authorOsorio, A-
dc.contributor.authorPapi, L-
dc.contributor.authorPapp, J-
dc.contributor.authorPasini, B-
dc.contributor.authorPedersen, IS-
dc.contributor.authorPeixoto, A-
dc.contributor.authorPeruga, N-
dc.contributor.authorPeterlongo, P-
dc.contributor.authorPohl, E-
dc.contributor.authorPradhan, N-
dc.contributor.authorPrajzendanc, K-
dc.contributor.authorPrieur, F-
dc.contributor.authorPujol, P-
dc.contributor.authorRadice, P-
dc.contributor.authorRamus, SJ-
dc.contributor.authorRantala, J-
dc.contributor.authorRashid, MU-
dc.contributor.authorRhiem, K-
dc.contributor.authorRobson, M-
dc.contributor.authorRodriguez, GC-
dc.contributor.authorRogers, MT-
dc.contributor.authorRudaitis, V-
dc.contributor.authorSchmidt, AY-
dc.contributor.authorSchmutzler, RK-
dc.contributor.authorSenter, L-
dc.contributor.authorShah, PD-
dc.contributor.authorSharma, P-
dc.contributor.authorSide, LE-
dc.contributor.authorSimard, J-
dc.contributor.authorSinger, DF-
dc.contributor.authorSkytte, AB-
dc.contributor.authorSlavin, TP-
dc.contributor.authorSnape, K-
dc.contributor.authorSobol, H-
dc.contributor.authorSouthey, M-
dc.contributor.authorSteele, L-
dc.contributor.authorSteinemann, D-
dc.contributor.authorSukiennicki, G-
dc.contributor.authorSutter, G-
dc.contributor.authorSzabo, CI-
dc.contributor.authorTan, YY-
dc.contributor.authorTeixeira, MR-
dc.contributor.authorTerry, MB-
dc.contributor.authorTeu, A-
dc.contributor.authorThomas, A-
dc.contributor.authorThull, DL-
dc.contributor.authorTischkowitz, M-
dc.contributor.authorTognazzo, S-
dc.contributor.authorToland, AE-
dc.contributor.authorTopka, S-
dc.contributor.authorTrainer, AH-
dc.contributor.authorTung, N-
dc.contributor.authorvan Asperen, CJ-
dc.contributor.authorvan der Hout, AH-
dc.contributor.authorvan der Kolk, LE-
dc.contributor.authorvan der Luijt, RB-
dc.contributor.authorVanHeetvelde, M-
dc.contributor.authorVaresco, L-
dc.contributor.authorVaron-Mateeva, R-
dc.contributor.authorVega, A-
dc.contributor.authorVillarreal-Garza, C-
dc.contributor.authorvon Wachenfeldt, A-
dc.contributor.authorWalker, L-
dc.contributor.authorWang-Gohrke, S-
dc.contributor.authorWappenschmidt, B-
dc.contributor.authorWeber, BHF-
dc.contributor.authorYannoukakos, D-
dc.contributor.authorYoon, SY-
dc.contributor.authorZanzottera, C-
dc.contributor.authorZidan, J-
dc.contributor.authorZorn, KK-
dc.contributor.authorHutten Selkirk, CG-
dc.contributor.authorHulick, PJ-
dc.contributor.authorChenevix-Trench, G-
dc.contributor.authorSpurdle, AB-
dc.contributor.authorAntoniou, AC-
dc.contributor.authorNathanson, KL-
dc.date.accessioned2018-08-22T01:43:25Z-
dc.date.available2018-08-22T01:43:25Z-
dc.date.issued2018-
dc.identifier.citationHuman Mutation, 2018, v. 39, p. 593-620-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/258746-
dc.description.abstractThe 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.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515-
dc.relation.ispartofHuman Mutation-
dc.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.-
dc.rightsPreprint: This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. Postprint: This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. Special Statement for Preprint only Before publication: 'This is a preprint of an article accepted for publication in [The Journal of Pathology] Copyright © ([year]) ([Pathological Society of Great Britain and Ireland])'. After publication: the preprint notice should be amended to follows: 'This is a preprint of an article published in [include the complete citation information for the final version of the Contribution as published in the print edition of the Journal]' For Cochrane Library/ Cochrane Database of Systematic Reviews, add statement & acknowledgement : ‘This review is published as a Cochrane Review in the Cochrane Database of Systematic Reviews 20XX, Issue X. Cochrane Reviews are regularly updated as new evidence emerges and in response to comments and criticisms, and the Cochrane Database of Systematic Reviews should be consulted for the most recent version of the Review.’ Please include reference to the Review and hyperlink to the original version using the following format e.g. Authors. Title of Review. Cochrane Database of Systematic Reviews 20XX, Issue #. Art. No.: CD00XXXX. DOI: 10.1002/14651858.CD00XXXX (insert persistent link to the article by using the URL: http://dx.doi.org/10.1002/14651858.CD00XXXX) (This statement should refer to the most recent issue of the Cochrane Database of Systematic Reviews in which the Review published.)-
dc.titleMutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.doi10.1002/humu.23406-
dc.identifier.pmcidPMC5903938-
dc.identifier.hkuros287508-
dc.identifier.volume39-
dc.identifier.spage593-
dc.identifier.epage620-
dc.publisher.placeUnited States-

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