Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Tomas Kirchhoff, Kenneth Offit, Mia M. Gaudet, Paul D.P. Pharoah, Douglas F. Easton, Antonis C. Antoniou, Lesley Mcguffog, Manjeet K. Humphreys, Alison M. Dunning, Stig E. Bojesen, Børge G. Nordestgaard, Henrik Flyger, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Thilo Dork, Peter Schürmann, Johann H. Karstens, Peter HillemannsFergus J. Couch, Janet Olson, Celine Vachon, Xianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W.R. Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Yon Dschun Ko, Hans Peter Fischer, Thomas Brüning, Beate Pesch, Volker Harth, Sylvia Rabstein, Annegien Broeks, Marjanka K. Schmidt, Laura J. Van 't Veer, Linde M. Braaf, Nichola Johnson, Olivia Fletcher, Lorna Gibson, Julian Peto, Clare Turnbull, Sheila Seal, Anthony Renwick, Nazneen Rahman, Pei Ei Wu, Jyh Cherng Yu, Chia Ni Hsiung, Chen Yang Shen, Melissa C. Southey, John L. Hopper, Fleur Hammet, Thijs van Dorpe, Anne Sophie Dieudonne, Sigrid Hatse, Diether Lambrechts, Irene L. Andrulis, Natalia Bogdanova, Natalia Antonenkova, Juri I. Rogov, Daria Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Christi J. van Asperen, Robert A.E.M. Tollenaar, Maartje J. Hooning, Peter Devilee, Sara Margolin, Annika Lindblom, Roger L. Milne, José Ignacio Arias, M. Pilar Zamora, Javier Benítez, Gianluca Severi, Laura Baglietto, Graham G. Giles, Georgia Chenevix-Trench, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing Chen, Helene Holland, Sue Healey, Shan Wang-Gohrke, Jenny Chang-Claude, Arto Mannermaa, Veli Matti Kosma, Jaana Kauppinen, Vesa Kataja, Bjarni A. Agnarsson, Maria A. Caligo, Andrew K. Godwin, Heli Nevanlinna, Tuomas Heikkinen, Zachary Fredericksen, Noralane Lindor, Katherine L. Nathanson, Susan M. Domchek, Niklas Loman, Per Karlsson, Marie Stenmark Askmalm, Beatrice Melin, Anna Von Wachenfeldt, Frans B.L. Hogervorst, Martijn Verheus, Matti A. Rookus, Caroline Seynaeve, Rogier A. Oldenburg, Marjolijn J. Ligtenberg, Margreet G.E.M. Ausems, Cora M. Aalfs, Hans J.P. Gille, Juul T. Wijnen, Encarna B. Gómez García, Susan Peock, Margaret Cook, Clare T. Oliver, Debra Frost, Craig Luccarini, Gabriella Pichert, Rosemarie Davidson, Carol Chu, Diana Eccles, Kai Ren Ong, Jackie Cook, Fiona Douglas, Shirley Hodgson, D. Gareth Evans, Rosalind Eeles, Bert Gold

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.

Original languageEnglish (US)
Article numbere35706
JournalPloS one
Volume7
Issue number6
DOIs
StatePublished - Jun 29 2012

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ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

Cite this

Kirchhoff, T., Offit, K., Gaudet, M. M., Pharoah, P. D. P., Easton, D. F., Antoniou, A. C., Mcguffog, L., Humphreys, M. K., Dunning, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Kang, D., Yoo, K. Y., Noh, D. Y., Ahn, S. H., Dork, T., Schürmann, P., Karstens, J. H., ... Gold, B. (2012). Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2. PloS one, 7(6), [e35706]. https://doi.org/10.1371/journal.pone.0035706