TY - JOUR A1 - Blanco, Ignacio A1 - Kuchenbaecker, Karoline A1 - Cuadras, Daniel A1 - Wang, Xianshu A1 - Barrowdale, Daniel A1 - Ruiz de Garibay, Gorka A1 - Librado, Pablo A1 - Sanchez-Gracia, Alejandro A1 - Rozas, Julio A1 - Bonifaci, Núria A1 - McGuffog, Lesley A1 - Pankratz, Vernon S. A1 - Islam, Abul A1 - Mateo, Francesca A1 - Berenguer, Antoni A1 - Petit, Anna A1 - Català, Isabel A1 - Brunet, Joan A1 - Feliubadaló, Lidia A1 - Tornero, Eva A1 - Benítez, Javier A1 - Osorio, Ana A1 - Ramón y Cajal, Teresa A1 - Nevanlinna, Heli A1 - Aittomäki, Kristina A1 - Arun, Banu K. A1 - Toland, Amanda E. A1 - Karlan, Beth Y. A1 - Walsh, Christine A1 - Lester, Jenny A1 - Greene, Mark H. A1 - Mai, Phuong L. A1 - Nussbaum, Robert L. A1 - Andrulis, Irene L. A1 - Domchek, Susan M. A1 - Nathanson, Katherine L. A1 - Rebbeck, Timothy R. A1 - Barkardottir, Rosa B. A1 - Jakubowska, Anna A1 - Lubinski, Jan A1 - Durda, Katarzyna A1 - Jaworska-Bieniek, Katarzyna A1 - Claes, Kathleen A1 - Van Maerken, Tom A1 - Díez, Orland A1 - Hansen, Thomas V. A1 - Jønson, Lars A1 - Gerdes, Anne-Marie A1 - Ejlertsen, Bent A1 - De la Hoya, Miguel A1 - Caldés, Trinidad A1 - Dunning, Alison M. A1 - Oliver, Clare A1 - Fineberg, Elena A1 - Cook, Margaret A1 - Peock, Susan A1 - McCann, Emma A1 - Murray, Alex A1 - Jacobs, Chris A1 - Pichert, Gabriella A1 - Lalloo, Fiona A1 - Chu, Carol A1 - Dorkins, Huw A1 - Paterson, Joan A1 - Ong, Kai-Ren A1 - Teixeira, Manuel R. A1 - Hogervorst, Frans B. L. A1 - Van der Hout, Annemarie H. A1 - Seynaeve, Caroline A1 - Van der Luijt, Rob B. A1 - Ligtenberg, Marjolijn J. L. A1 - Devilee, Peter A1 - Wijnen, Juul T. A1 - Rookus, Matti A. A1 - Meijers-Heijboer, Hanne E. J. A1 - Blok, Marinus J. A1 - Van den Ouweland, Ans M. W. A1 - Aalfs, Cora M. A1 - Rodriguez, Gustavo C. A1 - Phillips, Kelly-Anne A. A1 - Piedmonte, Marion A1 - Nerenstone, Stacy R. A1 - Bae-Jump, Victoria L. A1 - O'Malley, David M. A1 - Schmutzler, Rita K. A1 - Wappenschmidt, Barbara A1 - Rhiem, Kerstin A1 - Engel, Christoph A1 - Meindl, Alfons A1 - Ditsch, Nina A1 - Arnold, Norbert A1 - Plendl, Hansjoerg J. A1 - Niederacher, Dieter A1 - Sutter, Christian A1 - Wang-Gohrke, Shan A1 - Steinemann, Doris A1 - Preisler-Adams, Sabine A1 - Kast, Karin A1 - Varon-Mateeva, Raymonda A1 - Gehrig, Andrea A1 - Bojesen, Anders A1 - Pedersen, Inge Sokilde A1 - Sunde, Lone A1 - Birk Jensen, Uffe A1 - Thomassen, Mads A1 - Kruse, Torben A. A1 - Foretova, Lenka A1 - Peterlongo, Paolo A1 - Bernard, Loris A1 - Peissel, Bernard A1 - Scuvera, Giulietta A1 - Manoukian, Siranoush A1 - Radice, Paolo A1 - Ottini, Laura A1 - Montagna, Marco A1 - Agata, Simona A1 - Maugard, Christine A1 - Simard, Jacques A1 - Soucy, Penny A1 - Berger, Andreas A1 - Fink-Retter, Anneliese A1 - Singer, Christian F. A1 - Rappaport, Christine A1 - Geschwantler-Kaulich, Daphne A1 - Tea, Muy-Kheng A1 - Pfeiler, Georg A1 - John, Esther M. A1 - Miron, Alex A1 - Neuhausen, Susan L. A1 - Terry, Mary Beth A1 - Chung, Wendy K. A1 - Daly, Mary B. A1 - Goldgar, David E. A1 - Janavicius, Ramunas A1 - Dorfling, Cecilia M. A1 - Van Rensburg, Elisabeth J. A1 - Fostira, Florentia A1 - Konstantopoulou, Irene A1 - Garber, Judy A1 - Godwin, Andrew K. A1 - Olah, Edith A1 - Narod, Steven A. A1 - Rennert, Gad A1 - Paluch, Shani Shimon A1 - Laitman, Yael A1 - Friedman, Eitan A1 - Liljegren, Annelie A1 - Rantala, Johanna A1 - Stenmark-Askmalm, Marie A1 - Loman, Niklas A1 - Imyanitov, Evgeny N. A1 - Hamann, Ute A1 - Spurdle, Amanda B. A1 - Healey, Sue A1 - Weitzel, Jeffrey N. A1 - Herzog, Josef A1 - Margileth, David A1 - Gorrini, Chiara A1 - Esteller, Manel A1 - Gómez, Antonio A1 - Sayols, Sergi A1 - Vidal, Enrique A1 - Heyn, Holger A1 - Stoppa-Lyonnet, Dominique A1 - Léoné, Melanie A1 - Barjhoux, Laure A1 - Fassy-Colcombet, Marion A1 - Pauw, Antoine de A1 - Lasset, Christine A1 - Fert Ferrer, Sandra A1 - Castera, Laurent A1 - Berthet, Pascaline A1 - Cornelis, François A1 - Bignon, Yves-Jean A1 - Damiola, Francesca A1 - Mazoyer, Sylvie A1 - Sinilnikova, Olga M. A1 - Maxwell, Christopher A. A1 - Vijai, Joseph A1 - Robson, Mark A1 - Kauff, Noah A1 - Corines, Marina J. A1 - Villano, Danylko A1 - Cunningham, Julie A1 - Lee, Adam A1 - Lindor, Noralane A1 - Lázaro, Conxi A1 - Easton, Douglas F. A1 - Offit, Kenneth A1 - Chenevix-Trench, Georgia A1 - Couch, Fergus J. A1 - Antoniou, Antonis C. A1 - Pujana, Miguel Angel T1 - Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers JF - PLoS ONE N2 - While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 - 1.15, p = 1.9 x 10\(^{-4}\) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 - 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p\(_{interaction}\) values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. KW - genetic interaction networks KW - genome-wide association KW - expression signature KW - susceptibility loci KW - survival KW - modifiers KW - polymorphism KW - cell KW - chip-seq KW - elements Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-143469 VL - 10 IS - 4 ER -