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creators_name: Kuchenbäcker, Karoline B.
creators_name: Neuhausen, Susan L.
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creators_name: Wappenschmidt, Barbara
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creators_name: Manoukian, Siranoush
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creators_name: Scuvera, Giulietta
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creators_name: Dolcetti, Riccardo
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creators_name: Papi, Laura
creators_name: Tibiletti, Maria G.
creators_name: Giannini, Giuseppe
creators_name: Fostira, Florentia
creators_name: Konstantopoulou, Irene
creators_name: Garber, Judy
creators_name: Hamann, Ute
creators_name: Donaldson, Alan
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creators_name: Foo, Claire
creators_name: Evans, D. G.
creators_name: Frost, Debra
creators_name: Eccles, Diana
creators_name: Douglas, Fiona
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creators_name: Szabo, Csilla I.
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creators_name: Singer, Christian F.
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creators_name: Mai, Phuong L.
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creators_name: Rennert, Gad
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creators_name: Rantala, Johanna
creators_name: Arver, Brita
creators_name: Loman, Niklas
creators_name: Borg, Ake
creators_name: Ehrencrona, Hans
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creators_name: Simard, Jacques
creators_name: Easton, Douglas F.
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title: Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
subjects: ddc-610
divisions: i-850300
divisions: i-911500
abstract: Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers.   Methods: We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.   Results: The estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for BRCA1 and BRCA2 carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at P <10−6 in the analyses by PR status, HER2 status, TN phenotype, morphologic subtypes, histological grade and nodal involvement.   Conclusions: Differences in associations of common BC susceptibility alleles between BRCA1 and BRCA2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. Estimates of the risks associated with these variants based on population-based studies are likely to be applicable to mutation carriers after taking ER status into account, which has implications for risk prediction.  
date: 2014
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1653537604
own_urn: urn:nbn:de:bsz:16-heidok-194698
language: eng
bibsort: KUCHENBACKASSOCIATIO2014
full_text_status: public
publication: Breast cancer research
volume: 16
number: 3416
place_of_pub: London
pagerange: 1-27
issn: 1465-542X
citation:   Kuchenbäcker, Karoline B. ; Neuhausen, Susan L. ; Robson, Mark ; Barrowdale, Daniel ; McGuffog, Lesley ; Mulligan, Anna M. ; Andrulis, Irene L. ; Spurdle, Amanda B. ; Schmidt, Marjanka K. ; Schmutzler, Rita K. ; Engel, Christoph ; Wappenschmidt, Barbara ; Nevanlinna, Heli ; Thomassen, Mads ; Southey, Melissa ; Radice, Paolo ; Ramus, Susan J. ; Domchek, Susan M. ; Nathanson, Katherine L. ; Lee, Andrew ; Healey, Sue ; Nussbaum, Robert L. ; Rebbeck, Timothy R. ; Arun, Banu K. ; James, Paul ; Karlan, Beth Y. ; Lester, Jenny ; Cass, Ilana ; Terry, Mary B. ; Daly, Mary B. ; Goldgar, David E. ; Buys, Saundra S. ; Janavicius, Ramunas ; Tihomirova, Laima ; Tung, Nadine ; Dorfling, Cecilia M. ; Rensburg, Elizabeth J. ; Steele, Linda ; Hansen, Thomas ; Ejlertsen, Bent ; Gerdes, Anne-Marie ; Nielsen, Finn C. ; Dennis, Joe ; Cunningham, Julie ; Hart, Steven ; Slager, Susan ; Osorio, Ana ; Benitez, Javier ; Duran, Mercedes ; Weitzel, Jeffrey N. ; Tafur, Isaac ; Hander, Mary ; Peterlongo, Paolo ; Manoukian, Siranoush ; Peissel, Bernard ; Roversi, Gaia ; Scuvera, Giulietta ; Bonanni, Bernardo ; Mariani, Paolo ; Volorio, Sara ; Dolcetti, Riccardo ; Varesco, Liliana ; Papi, Laura ; Tibiletti, Maria G. ; Giannini, Giuseppe ; Fostira, Florentia ; Konstantopoulou, Irene ; Garber, Judy ; Hamann, Ute ; Donaldson, Alan ; Brewer, Carole ; Foo, Claire ; Evans, D. G. ; Frost, Debra ; Eccles, Diana ; Douglas, Fiona ; Brady, Angela ; Cook, Jackie ; Tischkowitz, Marc ; Adlard, Julian ; Barwell, Julian ; Ong, Kai-ren ; Walker, Lisa ; Izatt, Louise ; Side, Lucy E. ; Kennedy, M. J. ; Rogers, Mark T. ; Porteous, Mary E. ; Morrison, Patrick J. ; Platte, Radka ; Eeles, Ros ; Davidson, Rosemarie ; Hodgson, Shirley ; Ellis, Steve ; Godwin, Andrew K. ; Rhiem, Kerstin ; Meindl, Alfons ; Ditsch, Nina ; Arnold, Norbert ; Plendl, Hansjoerg ; Niederacher, Dieter ; Sutter, Christian ; Steinemann, Doris ; Markov, Nadja ; Kast, Karin ; Varon-Mateeva, Raymonda ; Gohrke, Shan ; Gehrig, Andrea ; Markiefka, Birgid ; Buecher, Bruno ; Lefol, Cédrick ; Stoppa-Lyonnet, Dominique ; Rouleau, Etienne ; Prieur, Fabienne ; Damiola, Francesca ; Barjhoux, Laure ; Faivre, Laurence ; Longy, Michel ; Sevenet, Nicolas ; Sinilnikova, Olga M. ; Mazoyer, Sylvie ; Bonadona, Valérie ; Caux-Moncoutier, Virginie ; Isaacs, Claudine ; Van Maerken, Tom ; Claes, Kathleen ; Piedmonte, Marion ; Andrews, Lesley ; Hays, John ; Rodriguez, Gustavo C. ; Caldes, Trinidad ; de la Hoya, Miguel ; Khan, Sofia ; Hogervorst, Frans B. ; Aalfs, Cora M. ; de Lange, JL ; Heijboer, Hanne E ; van der Hout, Annemarie H. ; Wijnen, Juul T. ; van Roozendaal, KEP ; Mensenkamp, Arjen R. ; Ouweland, Ans M. ; Deurzen, Carolien H. ; Luijt, Rob B. ; Olah, Edith ; Diez, Orland ; Lazaro, Conxi ; Blanco, Ignacio ; Teulé, Alex ; Menendez, Mireia ; Jakubowska, Anna ; Lubinski, Jan ; Cybulski, Cezary ; Gronwald, Jacek ; Jaworska-Bieniek, Katarzyna ; Durda, Katarzyna ; Arason, Adalgeir ; Maugard, Christine ; Soucy, Penny ; Montagna, Marco ; Agata, Simona ; Teixeira, Manuel R. ; Olswold, Curtis ; Lindor, Noralane ; Pankratz, Vernon S. ; Hallberg, Emily ; Wang, Xianshu ; Szabo, Csilla I. ; Vijai, Joseph ; Jacobs, Lauren ; Corines, Marina ; Lincoln, Anne ; Berger, Andreas ; Fink-Retter, Anneliese ; Singer, Christian F. ; Rappaport, Christine ; Gschwantler Kaulich, Daphne ; Pfeiler, Georg ; Tea, Muy-Kheng ; Phelan, Catherine M. ; Mai, Phuong L. ; Greene, Mark H. ; Rennert, Gad ; Imyanitov, Evgeny N. ; Glendon, Gord ; Toland, Amanda E. ; Bojesen, Anders ; Pedersen, Inge S. ; Jensen, Uffe B. ; Caligo, Maria A. ; Friedman, Eitan ; Berger, Raanan ; Laitman, Yael ; Rantala, Johanna ; Arver, Brita ; Loman, Niklas ; Borg, Ake ; Ehrencrona, Hans ; Olopade, Olufunmilayo I. ; Simard, Jacques ; Easton, Douglas F. ; Chenevix-Trench, Georgia ; Offit, Kenneth ; Couch, Fergus J. ; Antoniou, Antonis C.  (2014) Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.  Breast cancer research, 16 (3416).  pp. 1-27.  ISSN 1465-542X     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/19469/1/13058_2014_Article_492.pdf