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dc.contributor.authorMulligan, Anna Marie
dc.contributor.authorCouch, Fergus J
dc.contributor.authorBarrowdale, Daniel
dc.contributor.authorDomchek, Susan M
dc.contributor.authorEccles, Diana
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorRamus, Susan J
dc.contributor.authorRobson, Mark
dc.contributor.authorSherman, Mark
dc.contributor.authorSpurdle, Amanda B
dc.contributor.authorWappenschmidt, Barbara
dc.contributor.authorLee, Andrew
dc.contributor.authorMcGuffog, Lesley
dc.contributor.authorHealey, Sue
dc.contributor.authorSinilnikova, Olga M
dc.contributor.authorJanavicius, Ramunas
dc.contributor.authorHansen, Thomas vO
dc.contributor.authorNielsen, Finn C
dc.contributor.authorEjlertsen, Bent
dc.contributor.authorOsorio, Ana
dc.contributor.authorMuñoz-Repeto, Iván
dc.contributor.authorDurán, Mercedes
dc.contributor.authorGodino, Javier
dc.contributor.authorPertesi, Maroulio
dc.contributor.authorBenítez, Javier
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorPeissel, Bernard
dc.contributor.authorZaffaroni, Daniela
dc.contributor.authorCattaneo, Elisa
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorViel, Alessandra
dc.contributor.authorPasini, Barbara
dc.contributor.authorPapi, Laura
dc.contributor.authorOttini, Laura
dc.contributor.authorSavarese, Antonella
dc.contributor.authorBernard, Loris
dc.contributor.authorRadice, Paolo
dc.contributor.authorHamann, Ute
dc.contributor.authorVerheus, Martijn
dc.contributor.authorMeijers-Heijboer, Hanne E J
dc.contributor.authorWijnen, Juul
dc.contributor.authorGómez García, Encarna B
dc.contributor.authorNelen, Marcel R
dc.contributor.authorKets, C Marleen
dc.contributor.authorSeynaeve, Caroline
dc.contributor.authorTilanus-Linthorst, Madeleine M A
dc.contributor.authorvan der Luijt, Rob B
dc.contributor.authorvan Os, Theo
dc.contributor.authorRookus, Matti
dc.contributor.authorFrost, Debra
dc.contributor.authorJones, J Louise
dc.contributor.authorEvans, D Gareth
dc.contributor.authorLalloo, Fiona
dc.contributor.authorEeles, Ros
dc.contributor.authorIzatt, Louise
dc.contributor.authorAdlard, Julian
dc.contributor.authorDavidson, Rosemarie
dc.contributor.authorCook, Jackie
dc.contributor.authorDonaldson, Alan
dc.contributor.authorDorkins, Huw
dc.contributor.authorGregory, Helen
dc.contributor.authorEason, Jacqueline
dc.contributor.authorHoughton, Catherine
dc.contributor.authorBarwell, Julian
dc.contributor.authorSide, Lucy E
dc.contributor.authorMcCann, Emma
dc.contributor.authorMurray, Alex
dc.contributor.authorPeock, Susan
dc.contributor.authorGodwin, Andrew K
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorRhiem, Kerstin
dc.contributor.authorEngel, Christoph
dc.contributor.authorMeindl, Alfons
dc.contributor.authorRuehl, Ina
dc.contributor.authorArnold, Norbert
dc.contributor.authorNiederacher, Dieter
dc.contributor.authorSutter, Christian
dc.contributor.authorDeissler, Helmut
dc.contributor.authorGadzicki, Dorothea
dc.contributor.authorKast, Karin
dc.contributor.authorPreisler-Adams, Sabine
dc.contributor.authorVaron-Mateeva, Raymonda
dc.contributor.authorSchoenbuchner, Ines
dc.contributor.authorFiebig, Britta
dc.contributor.authorHeinritz, Wolfram
dc.contributor.authorSchäfer, Dieter
dc.contributor.authorGevensleben, Heidrun
dc.contributor.authorCaux-Moncoutier, Virginie
dc.contributor.authorFassy-Colcombet, Marion
dc.contributor.authorCornelis, François
dc.contributor.authorMazoyer, Sylvie
dc.contributor.authorLéoné, Mélanie
dc.contributor.authorBoutry-Kryza, Nadia
dc.contributor.authorHardouin, Agnès
dc.contributor.authorBerthet, Pascaline
dc.contributor.authorMuller, Danièle
dc.contributor.authorFricker, Jean-Pierre
dc.contributor.authorMortemousque, Isabelle
dc.contributor.authorPujol, Pascal
dc.contributor.authorCoupier, Isabelle
dc.contributor.authorLebrun, Marine
dc.contributor.authorKientz, Caroline
dc.contributor.authorLongy, Michel
dc.contributor.authorSevenet, Nicolas
dc.contributor.authorStoppa-Lyonnet, Dominique
dc.contributor.authorIsaacs, Claudine
dc.contributor.authorCaldes, Trinidad
dc.contributor.authorde la Hoya, Miguel
dc.contributor.authorHeikkinen, Tuomas
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorBlanco, Ignacio
dc.contributor.authorLazaro, Conxi
dc.contributor.authorBarkardottir, Rosa B
dc.contributor.authorSoucy, Penny
dc.contributor.authorDumont, Martine
dc.contributor.authorSimard, Jacques
dc.contributor.authorMontagna, Marco
dc.contributor.authorTognazzo, Silvia
dc.contributor.authorD'Andrea, Emma
dc.contributor.authorFox, Stephen
dc.contributor.authorYan, Max
dc.contributor.authorRebbeck, Tim
dc.contributor.authorOlopade, Olufunmilayo
dc.contributor.authorWeitzel, Jeffrey N
dc.contributor.authorLynch, Henry T
dc.contributor.authorGanz, Patricia A
dc.contributor.authorTomlinson, Gail E
dc.contributor.authorWang, Xianshu
dc.contributor.authorFredericksen, Zachary
dc.contributor.authorPankratz, Vernon S
dc.contributor.authorLindor, Noralane M
dc.contributor.authorSzabo, Csilla
dc.contributor.authorOffit, Kenneth
dc.contributor.authorSakr, Rita
dc.contributor.authorGaudet, Mia
dc.contributor.authorBhatia, Jasmine
dc.contributor.authorKauff, Noah
dc.contributor.authorSinger, Christian F
dc.contributor.authorTea, Muy-Kheng
dc.contributor.authorGschwantler-Kaulich, Daphne
dc.contributor.authorFink-Retter, Anneliese
dc.contributor.authorMai, Phuong L
dc.contributor.authorGreene, Mark H
dc.contributor.authorImyanitov, Evgeny
dc.contributor.authorO'Malley, Frances P
dc.contributor.authorOzcelik, Hilmi
dc.contributor.authorGlendon, Gordon
dc.contributor.authorToland, Amanda E
dc.contributor.authorGerdes, Anne-Marie
dc.contributor.authorThomassen, Mads
dc.contributor.authorKruse, Torben A
dc.contributor.authorJensen, Uffe Birk
dc.contributor.authorSkytte, Anne-Bine
dc.contributor.authorCaligo, Maria A
dc.contributor.authorSoller, Maria
dc.contributor.authorHenriksson, Karin
dc.contributor.authorWachenfeldt, von Anna
dc.contributor.authorArver, Brita
dc.contributor.authorStenmark-Askmalm, Marie
dc.contributor.authorKarlsson, Per
dc.contributor.authorDing, Yuan Chun
dc.contributor.authorNeuhausen, Susan L
dc.contributor.authorBeattie, Mary
dc.contributor.authorPharoah, Paul D P
dc.contributor.authorMoysich, Kirsten B
dc.contributor.authorNathanson, Katherine L
dc.contributor.authorKarlan, Beth Y
dc.contributor.authorGross, Jenny
dc.contributor.authorJohn, Esther M
dc.contributor.authorDaly, Mary B
dc.contributor.authorBuys, Saundra M
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorHopper, John L
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorChung, Wendy
dc.contributor.authorMiron, Alexander F
dc.contributor.authorGoldgar, David
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorEaston, Douglas F
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAntoniou, Antonis C
dc.date.accessioned2012-06-05T10:00:08Z
dc.date.available2012-06-05T10:00:08Z
dc.date.issued2011
dc.date.submitted2012-06-05
dc.identifier.citationBreast Cancer Res. 2011, 13(6):R110en_GB
dc.identifier.issn1465-542X
dc.identifier.pmid22053997
dc.identifier.doi10.1186/bcr3052
dc.identifier.urihttp://hdl.handle.net/2336/227533
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field.en_GB
dc.description.abstractINTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
dc.description.sponsorshipBreast Cancer Research Foundation MacDonald Family Foundation Komen Foundation NIH, NCI P50 CA 058207 Avon Foundation UCSF Helen Diller Family Comprehensive Cancer Center UK CRUK Russian Federation for Basic Research 10-04-92601 10-04-92110 11-04-00227 Federal Agency for Science and Innovations 02.740.11.0780 Commission of the European Communities PITN-GA-2009-238132 Royal Society JP090615 US National Cancer Institute Westat, Inc., Rockville, MD Starr Cancer Consortium Norman and Carol Stone Genetic Research Fund Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC NIH CA116167 CA128978 Research Excellence (SPORE) in Breast Cancer CA116201 Ministero della Salute RFPS 2006-5-341353 ACC2/R6.9 Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) Icelandic Association Landspitali University Hospital NEYE Foundation Deutsches Krebsforschungszentrum (DKFZ) Associazione Italiana per la Ricerca sul Cancro 4017 Italian citizens Fondazione Italiana per la Ricerca sul Cancro Cancer Research UK C12292/A11174 C1287/A10118 C1287/A11990 C5047/A8385 NIHR Eileen Stein Jacoby Fund University of Kansas Cancer Center Kansas Bioscience Authority Eminent Scholar Program Familial Cancer Registry (CI) Tissue Culture Shared Registry at Georgetown University (NIH/NCI) P30-CA051008 Cancer Genetics Network HHSN261200744000C Swing Fore the Cure German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC German Cancer Aid 109076 Centre of Molecular Medicine Cologne (CMMC) Ligue National Contre le Cancer Association for International Cancer AICR-07-0454 Association "Le cancer du sein, parlons-en!" Award European Community 223175 (HEALTH-F2-2009-223175) National Cancer Institute, National Institutes of Health RFA-CA-06-503 Liepaja's municipal council NO2-CP-11019-50 N02-CP-65504 U01CA69631 5U01CA113916en_GB
dc.language.isoenen
dc.publisherBioMed Centralen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552/?tool=pubmeden_GB
dc.relation.urlhttp://dx.doi.org/10.1186/bcr3052en_GB
dc.rightsArchived with thanks to Breast cancer research : BCRen_GB
dc.titleCommon breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.en
dc.typeArticleen
dc.contributor.departmentCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.en_GB
dc.identifier.journalBreast cancer research : BCRen_GB
html.description.abstractINTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.


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