11q13 is a susceptibility locus for hormone receptor positive breast cancer

Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias PérezJavier Benítez, Ute Hamann, Yon Dschun Ko, Thomas Brüning, Jenny Chang-Claude, Ursel Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Shan Wang-Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, Florence Menegaux, Emilie Cordina-Duverger, Chen Yang Shen, Jyh Cherng Yu, Pei Ei Wu, Ming Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth R. Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael Jones, Nicholas Orr, Alan Ashworth, Anthony Swerdlow, Gianluca Severi, Laura Baglietto, Graham Giles, Melissa Southey, Federik Marmé, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Betul T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V. Bogdanova, Natalia N. Antonenkova, Yuri I. Rogov, Johann H. Karstens, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Arto Mannermaa, Vesa Kataja, Veli Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne Lise Børresen-Dale, Peter Devilee, Robert A E M Tollenaar, Caroline M. Seynaeve, Maartje J. Hooning, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun Young Yoo, Dong Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D P Pharoah, Douglas F. Easton, Pascal Guénel, Hiltrud Brauch

Research output: Contribution to journalArticle

Abstract

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10 -9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10 -39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

Original languageEnglish
Pages (from-to)1123-1132
Number of pages10
JournalHuman Mutation
Volume33
Issue number7
DOIs
Publication statusPublished - Jul 2012

Keywords

  • 11q13
  • Breast cancer susceptibility
  • Genome-wide association
  • Hormone receptor status
  • Polymorphisms
  • Risk factors

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Cornelissen, S., van Hien, R., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Milne, R. L., Zamora, M. P., ... Brauch, H. (2012). 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human Mutation, 33(7), 1123-1132. https://doi.org/10.1002/humu.22089