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Article: Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

TitleOvarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Authors
Ramus, SJAntoniou, ACKuchenbaecker, KBSoucy, PBeesley, JChen, XMcGuffog, LSinilnikova, OMSinilnikova, OMHealey, SBarrowdale, DNathanson, KLJohn, EMBernard, LBonanni, BLeone, MRobson, MBrewer, CDouglas, FTeo, SHMeindl, AAittomaki, KMiron, ATejada, MIFineberg, ESchafer, DFaivre, LDurda, KArnold, NVaszko, TOlah, EZaffaroni, DEeles, RGerdes, AMBerthet, PMoysich, KBSkytte, ABEMBRACE,Hoffman, JSEllis, SDLee, AMorrison, PJBonadona, VHardouin, AKennedy, MJDitsch, NCaides, TKristoffersson, UDing, YCJensen, UBJanavicius, RGodwin, AKNiederacher, DFiebig, BPapi, LSimard, JCole, TVijai, JPathak, HFrost, DMontagna, MLoustaiot, CPlatte, RLubinski, JSouthey, MMargriet Callee, JWang, Xvan Leeuwen, FEPeterlongo, PRookus, MPaterson, JDaly, MKwong, ALazaro, CHuzarski, TByrski, TGauthier-Villars, MKriege, MCouch, FJSchmutzler, RKLindblom, AWappenschmidt, BBeattie, MSKast, KStenmark-Askmalm, MCaligo, MAAndrulis, ILCaux-Moncoutier, VHEBON,Adlard, JEngel, CPeissel, BPorteous, MEHodgson, SStoppa-Lyonnet, DBenitez, JJacobs, CEjlertsen, BOsorio, AOlisson, HTea Maria, MKAalfs, CMNevanlinna, HTornero, ERadice, PToland, AEChung, WLasset, CPeock, SIsaacs, CCybuiski, CDavidson, RBerth Terry, MOzcelik, Hvan Asperen, CJRebbeck, TROCGN,Navarro, MOffit, KEccles, DTognazzo, Svan der Luijt, RBHamann, USpurdle, ABDomchek, SMKruse, TALallco, FEvans, DGDuran, MGayther, SAPiedmonte, MSutter, CSWE-BRCA,de la Hoya, MHeidemann, SBignon, YJCook, JKirchhoff, TPhillips, KAGehrig, AVan Le, LToloczko-Grabarek, Avan Rensburg, EJPankratz, VSSinger, CFBianco, IGadzicki, DManoukian, SFredericksen, ZGross, JGEMO,Buys, SThomassen, MDolcetti, RUhrhammer, NDofling, CMNeuhausen, SLGaudet, MMJohannsson, OTMai, PLPharoah, PDCalender, AGlendon, GPlante, MPeock, SOttini, LEaston, DFGanz, PAMejiers-Hejboer, HEDeissler, HPreiser-Adams, SJakubowska, AFink-Retter, AMazoyer, SWalker, LkConFab,Chenevix-Trench, GImyanitov, EPfeiler, GZlowocka, EGronwald, JKarfan, BYVaron-Mateeva, RJaworska, KHoogerbrugge, Nvan Roozendaal, KELindor, Nde Pauw, AMelin, BDiez, OLijegren, AHansen, TVGreene, MHGoldgar, D
Issue Date2012
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2012, v. 33 n. 4, p. 690-702 How to Cite?
AbstractGermline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 x 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 x 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 x 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.
Persistent Identifierhttp://hdl.handle.net/10722/182312
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorRamus, SJ-
dc.contributor.authorAntoniou, AC-
dc.contributor.authorKuchenbaecker, KB-
dc.contributor.authorSoucy, P-
dc.contributor.authorBeesley, J-
dc.contributor.authorChen, X-
dc.contributor.authorMcGuffog, L-
dc.contributor.authorSinilnikova, OM-
dc.contributor.authorSinilnikova, OM-
dc.contributor.authorHealey, S-
dc.contributor.authorBarrowdale, D-
dc.contributor.authorNathanson, KL-
dc.contributor.authorJohn, EM-
dc.contributor.authorBernard, L-
dc.contributor.authorBonanni, B-
dc.contributor.authorLeone, M-
dc.contributor.authorRobson, M-
dc.contributor.authorBrewer, C-
dc.contributor.authorDouglas, F-
dc.contributor.authorTeo, SH-
dc.contributor.authorMeindl, A-
dc.contributor.authorAittomaki, K-
dc.contributor.authorMiron, A-
dc.contributor.authorTejada, MI-
dc.contributor.authorFineberg, E-
dc.contributor.authorSchafer, D-
dc.contributor.authorFaivre, L-
dc.contributor.authorDurda, K-
dc.contributor.authorArnold, N-
dc.contributor.authorVaszko, T-
dc.contributor.authorOlah, E-
dc.contributor.authorZaffaroni, D-
dc.contributor.authorEeles, R-
dc.contributor.authorGerdes, AM-
dc.contributor.authorBerthet, P-
dc.contributor.authorMoysich, KB-
dc.contributor.authorSkytte, AB-
dc.contributor.authorEMBRACE,-
dc.contributor.authorHoffman, JS-
dc.contributor.authorEllis, SD-
dc.contributor.authorLee, A-
dc.contributor.authorMorrison, PJ-
dc.contributor.authorBonadona, V-
dc.contributor.authorHardouin, A-
dc.contributor.authorKennedy, MJ-
dc.contributor.authorDitsch, N-
dc.contributor.authorCaides, T-
dc.contributor.authorKristoffersson, U-
dc.contributor.authorDing, YC-
dc.contributor.authorJensen, UB-
dc.contributor.authorJanavicius, R-
dc.contributor.authorGodwin, AK-
dc.contributor.authorNiederacher, D-
dc.contributor.authorFiebig, B-
dc.contributor.authorPapi, L-
dc.contributor.authorSimard, J-
dc.contributor.authorCole, T-
dc.contributor.authorVijai, J-
dc.contributor.authorPathak, H-
dc.contributor.authorFrost, D-
dc.contributor.authorMontagna, M-
dc.contributor.authorLoustaiot, C-
dc.contributor.authorPlatte, R-
dc.contributor.authorLubinski, J-
dc.contributor.authorSouthey, M-
dc.contributor.authorMargriet Callee, J-
dc.contributor.authorWang, X-
dc.contributor.authorvan Leeuwen, FE-
dc.contributor.authorPeterlongo, P-
dc.contributor.authorRookus, M-
dc.contributor.authorPaterson, J-
dc.contributor.authorDaly, M-
dc.contributor.authorKwong, A-
dc.contributor.authorLazaro, C-
dc.contributor.authorHuzarski, T-
dc.contributor.authorByrski, T-
dc.contributor.authorGauthier-Villars, M-
dc.contributor.authorKriege, M-
dc.contributor.authorCouch, FJ-
dc.contributor.authorSchmutzler, RK-
dc.contributor.authorLindblom, A-
dc.contributor.authorWappenschmidt, B-
dc.contributor.authorBeattie, MS-
dc.contributor.authorKast, K-
dc.contributor.authorStenmark-Askmalm, M-
dc.contributor.authorCaligo, MA-
dc.contributor.authorAndrulis, IL-
dc.contributor.authorCaux-Moncoutier, V-
dc.contributor.authorHEBON,-
dc.contributor.authorAdlard, J-
dc.contributor.authorEngel, C-
dc.contributor.authorPeissel, B-
dc.contributor.authorPorteous, ME-
dc.contributor.authorHodgson, S-
dc.contributor.authorStoppa-Lyonnet, D-
dc.contributor.authorBenitez, J-
dc.contributor.authorJacobs, C-
dc.contributor.authorEjlertsen, B-
dc.contributor.authorOsorio, A-
dc.contributor.authorOlisson, H-
dc.contributor.authorTea Maria, MK-
dc.contributor.authorAalfs, CM-
dc.contributor.authorNevanlinna, H-
dc.contributor.authorTornero, E-
dc.contributor.authorRadice, P-
dc.contributor.authorToland, AE-
dc.contributor.authorChung, W-
dc.contributor.authorLasset, C-
dc.contributor.authorPeock, S-
dc.contributor.authorIsaacs, C-
dc.contributor.authorCybuiski, C-
dc.contributor.authorDavidson, R-
dc.contributor.authorBerth Terry, M-
dc.contributor.authorOzcelik, H-
dc.contributor.authorvan Asperen, CJ-
dc.contributor.authorRebbeck, TR-
dc.contributor.authorOCGN,-
dc.contributor.authorNavarro, M-
dc.contributor.authorOffit, K-
dc.contributor.authorEccles, D-
dc.contributor.authorTognazzo, S-
dc.contributor.authorvan der Luijt, RB-
dc.contributor.authorHamann, U-
dc.contributor.authorSpurdle, AB-
dc.contributor.authorDomchek, SM-
dc.contributor.authorKruse, TA-
dc.contributor.authorLallco, F-
dc.contributor.authorEvans, DG-
dc.contributor.authorDuran, M-
dc.contributor.authorGayther, SA-
dc.contributor.authorPiedmonte, M-
dc.contributor.authorSutter, C-
dc.contributor.authorSWE-BRCA,-
dc.contributor.authorde la Hoya, M-
dc.contributor.authorHeidemann, S-
dc.contributor.authorBignon, YJ-
dc.contributor.authorCook, J-
dc.contributor.authorKirchhoff, T-
dc.contributor.authorPhillips, KA-
dc.contributor.authorGehrig, A-
dc.contributor.authorVan Le, L-
dc.contributor.authorToloczko-Grabarek, A-
dc.contributor.authorvan Rensburg, EJ-
dc.contributor.authorPankratz, VS-
dc.contributor.authorSinger, CF-
dc.contributor.authorBianco, I-
dc.contributor.authorGadzicki, D-
dc.contributor.authorManoukian, S-
dc.contributor.authorFredericksen, Z-
dc.contributor.authorGross, J-
dc.contributor.authorGEMO,-
dc.contributor.authorBuys, S-
dc.contributor.authorThomassen, M-
dc.contributor.authorDolcetti, R-
dc.contributor.authorUhrhammer, N-
dc.contributor.authorDofling, CM-
dc.contributor.authorNeuhausen, SL-
dc.contributor.authorGaudet, MM-
dc.contributor.authorJohannsson, OT-
dc.contributor.authorMai, PL-
dc.contributor.authorPharoah, PD-
dc.contributor.authorCalender, A-
dc.contributor.authorGlendon, G-
dc.contributor.authorPlante, M-
dc.contributor.authorPeock, S-
dc.contributor.authorOttini, L-
dc.contributor.authorEaston, DF-
dc.contributor.authorGanz, PA-
dc.contributor.authorMejiers-Hejboer, HE-
dc.contributor.authorDeissler, H-
dc.contributor.authorPreiser-Adams, S-
dc.contributor.authorJakubowska, A-
dc.contributor.authorFink-Retter, A-
dc.contributor.authorMazoyer, S-
dc.contributor.authorWalker, L-
dc.contributor.authorkConFab,-
dc.contributor.authorChenevix-Trench, G-
dc.contributor.authorImyanitov, E-
dc.contributor.authorPfeiler, G-
dc.contributor.authorZlowocka, E-
dc.contributor.authorGronwald, J-
dc.contributor.authorKarfan, BY-
dc.contributor.authorVaron-Mateeva, R-
dc.contributor.authorJaworska, K-
dc.contributor.authorHoogerbrugge, N-
dc.contributor.authorvan Roozendaal, KE-
dc.contributor.authorLindor, N-
dc.contributor.authorde Pauw, A-
dc.contributor.authorMelin, B-
dc.contributor.authorDiez, O-
dc.contributor.authorLijegren, A-
dc.contributor.authorHansen, TV-
dc.contributor.authorGreene, MH-
dc.contributor.authorGoldgar, D-
dc.date.accessioned2013-04-22T01:17:56Z-
dc.date.available2013-04-22T01:17:56Z-
dc.date.issued2012-
dc.identifier.citationHuman Mutation, 2012, v. 33 n. 4, p. 690-702-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/182312-
dc.description.abstractGermline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 x 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 x 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 x 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.-
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.rightsSpecial 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.subject.meshBRCA1 Protein - genetics-
dc.subject.meshBRCA2 Protein - genetics-
dc.subject.meshMutation-
dc.subject.meshOvarian Neoplasms - genetics-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.titleOvarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriersen_US
dc.typeArticleen_US
dc.identifier.emailKwong, A: avakwong@hkucc.hku.hk-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1002/humu.22025-
dc.identifier.pmid22253144-
dc.identifier.pmcidPMC3458423-
dc.identifier.scopuseid_2-s2.0-84862792587-
dc.identifier.hkuros198689-
dc.identifier.hkuros198742-
dc.identifier.volume33-
dc.identifier.issue4-
dc.identifier.spage690-
dc.identifier.epage702-
dc.identifier.isiWOS:000301338900017-
dc.publisher.placeUnited States-

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