Common 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 Journal Article

   

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Authors:	Mulligan, A. M.; Couch, F. J.; Barrowdale, D.; Domchek, S. M.; Eccles, D.; Nevanlinna, H.; Ramus, S. J.; Robson, M.; Sherman, M.; Spurdle, A. B.; Wappenschmidt, B.; Lee, A.; McGuffog, L.; Healey, S.; Sinilnikova, O. M.; Janavicius, R.; Hansen, T. V.; Nielsen, F. C.; Ejlertsen, B.; Osorio, A.; Munoz-Repeto, I.; Durán, M.; Godino, J.; Pertesi, M.; Benítez, J.; Peterlongo, P.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Cattaneo, E.; Bonanni, B.; Viel, A.; Pasini, B.; Papi, L.; Ottini, L.; Savarese, A.; Bernard, L.; Radice, P.; Hamann, U.; Verheus, M.; Meijers-Heijboer, H. E. J.; Wijnen, J.; Gómez García, E. B.; Nelen, M. R.; Kets, C. M.; Seynaeve, C.; Tilanus-Linthorst, M. M. A.; van der Luijt, R. B.; Os, T. V.; Rookus, M.; Frost, D.; Jones, J. L.; Evans, D. G.; Lalloo, F.; Eeles, R.; Izatt, L.; Adlard, J.; Davidson, R.; Cook, J.; Donaldson, A.; Dorkins, H.; Gregory, H.; Eason, J.; Houghton, C.; Barwell, J.; Side, L. E.; McCann, E.; Murray, A.; Peock, S.; Godwin, A. K.; Schmutzler, R. K.; Rhiem, K.; Engel, C.; Meindl, A.; Ruehl, I.; Arnold, N.; Niederacher, D.; Sutter, C.; Deissler, H.; Gadzicki, D.; Kast, K.; Preisler-Adams, S.; Varon-Mateeva, R.; Schoenbuchner, I.; Fiebig, B.; Heinritz, W.; Schafer, D.; Gevensleben, H.; Caux-Moncoutier, V.; Fassy-Colcombet, M.; Cornelis, F.; Mazoyer, S.; Léoné, M.; Boutry-Kryza, N.; Hardouin, A.; Berthet, P.; Muller, D.; Fricker, J. P.; Mortemousque, I.; Pujol, P.; Coupier, I.; Lebrun, M.; Kientz, C.; Longy, M.; Sevenet, N.; Stoppa-Lyonnet, D.; Isaacs, C.; Caldes, T.; de la Hoya, M.; Heikkienen, T.; Aittomaki, K.; Blanco, I.; Lazaro, C.; Barkardottir, R. B.; Soucy, P.; Dumont, M.; Simard, J.; Montagna, M.; Tognazzo, S.; D'Andrea, E.; Fox, S.; Yan, M.; Rebbeck, T.; Olopade, O. I.; Weitzel, J. N.; Lynch, H. T.; Ganz, P. A.; Tomlinson, G. E.; Wang, X.; Fredericksen, Z.; Pankratz, V. S.; Lindor, N. M.; Szabo, C.; Offit, K.; Sakr, R.; Gaudet, M.; Bhatia, J.; Kauff, N.; Singer, C. F.; Tea, M. K.; Gschwantler-Kaulich, D.; Fink-Retter, A.; Mai, P. L.; Greene, M. H.; Imyanitov, E.; O'Malley, F. P.; Ozcelik, H.; Glendon, G.; Toland, A. E.; Toland, A. E.; Gerdes, A. M.; Thomassen, M.; Kruse, T. A.; Jensen, U. B.; Skytte, A. B.; Caligo, M. A.; Soller, M.; Henriksson, K.; von Wachenfeldt, A.; Arver, B.; Stenmark-Askmalm, M.; Karlsson, P.; Ding, Y. C.; Neuhausen, S. L.; Beattie, M.; Pharoah, P. D. P.; Moysich, K. B.; Nathanson, K. L.; Karlan, B. Y.; Gross, J.; John, E. M.; Daly, M. B.; Buys, S. M.; Southey, M. C.; Hopper, J. L.; Terry, M. B.; Chung, W.; Miron, A. F.; Goldgar, D.; Chenevix-Trench, G.; Easton, D. F.; Andrulis, I. L.; Antoniou, A. C.; for Breast Cancer Family Registry; for EMBRACE; for GEMO Study Collaborators; for HEBON; for kConFab Investigators; for Ontario Cancer Genetics Network; for SWE-BRCA; for CIMBA
Article Title:	Common 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
Abstract:	Introduction: 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. © 2011 Mulligan et al.; licensee BioMed Central Ltd.
Keywords:	adult; gene mutation; major clinical study; single nucleotide polymorphism; genetics; mutation; polymorphism, single nucleotide; cancer risk; metabolism; allele; cancer susceptibility; genetic predisposition to disease; breast cancer; classification; cohort analysis; gene locus; genetic association; genotype; alleles; breast neoplasms; brca2 protein; heterozygote; retrospective study; risk; tumor suppressor gene; genes, brca1; genes, brca2; multicenter study; genetic susceptibility; breast tumor; receptors, estrogen; receptors, progesterone; estrogen receptor; progesterone receptor; genetic predisposition; fibroblast growth factor receptor 2; genetic heterogeneity; brca1 associated ring domain protein 1
Journal Title:	Breast Cancer Research
Volume:	13
Issue:	6
ISSN:	1465-5411
Publisher:	Biomed Central Ltd
Date Published:	2011-01-01
Start Page:	R110
Language:	English
PUBMED:	22053997
PROVIDER:	scopus
PMCID:	PMC3326552
DOI:	10.1186/bcr3052
DOI/URL:	http://www.scopus.com/inward/record.url?eid=2-s2.0-80055117035&partnerID=40&md5=4cad9f2e5608922be97f221bc999a188
Notes:	--- - Cited By (since 1996):12 - "Export Date: 7 May 2013" - "CODEN: BCRRC" - ":doi 10.1186/bcr3052" - ": Chemicals/CASReceptors, Estrogen; Receptors, Progesterone" - "Source: Scopus"

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