4.5 Article

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

Journal

HUMAN MUTATION
Volume 33, Issue 7, Pages 1123-1132

Publisher

WILEY
DOI: 10.1002/humu.22089

Keywords

breast cancer susceptibility; polymorphisms; genome-wide association; risk factors; hormone receptor status; 11q13

Funding

  1. European Community [223175, HEALTH-F2-2009-223175]
  2. Cancer Research UK [C1287/A10118, C1287/A12014]
  3. European Union COST [BM0606]
  4. United States National Cancer Institute, National Institutes of Health (NIH) [RFA-CA-06-503]
  5. Cancer Prevention Institute of California [U01 CA69417]
  6. University of Melbourne [U01 CA69638]
  7. National Health and Medical Research Council of Australia
  8. New South Wales Cancer Council
  9. Victorian Health Promotion Foundation (Australia)
  10. Victorian Breast Cancer Research Consortium
  11. Dutch Cancer Society [NKI DCS 2007-3839, 2009-4363, UL1997-1505]
  12. Dutch National Genomics Initiative
  13. Breast Cancer Research Trust
  14. ELAN of the University Hospital of Erlangen
  15. Cancer Research UK
  16. Breakthrough Breast Cancer
  17. NHS
  18. National Cancer Research Network (NCRN)
  19. NIHR Comprehensive Biomedical Research Centre, Guy's and St. Thomas' NHS Foundation Trust
  20. King's College London
  21. Oxford Biomedical Research Centre
  22. Dietmar-Hopp Foundation
  23. Helmholtz Society
  24. German Cancer Research Center (DKFZ)
  25. Fondation de France [2004012618, 2007005156]
  26. Institut National du Cancer (INCa) [2007-1 SPC2, 2008-1-CP-4, 2009-1-SHS SP-04]
  27. Association pour la Recherche contre le Cancer (ARC) [2008-1-CP-4]
  28. Genome Spain Foundation
  29. Red Tematica de Investigacion Cooperativa en Cancer
  30. Asociacion Espanola Contra el Cancer
  31. Fondo de Investigacion Sanitario [PI081583, PI081120]
  32. Chief Physician Johan Boserup and Lise Boserup Fund
  33. Danish Medical Research Council
  34. Herlev Hospital
  35. Baden Wurttemberg Ministry of Science, Research and Arts
  36. German Cancer Aid (Deutsche Krebshilfe) [107054]
  37. Federal Ministry of Education and Research (BMBF), Germany [01KW9975/5, 01KW9976/8, 01KW9977/0, 01KW0114]
  38. Robert Bosch Foundation, Stuttgart
  39. Deutsches Krebsforschungszentrum (DKFZ), Heidelberg
  40. Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn
  41. Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Bochum, Germany
  42. Stichting tegen Kanker [232-2008, 196-2010]
  43. German Cancer Research Centre (DKFZ)
  44. Rudolf Bartling Foundation
  45. Hannover Medical School
  46. Helsinki University Central Hospital
  47. Academy of Finland [132473]
  48. Finnish Cancer Society
  49. Sigrid Juselius Foundation
  50. German Academic Exchange Program
  51. Friends of Hannover Medical School
  52. German Federal Ministry of Research and Education [RUS08/017]
  53. Swedish Cancer Society
  54. Gustav V Jubilee Foundation
  55. National Breast Cancer Foundation
  56. NHMRC
  57. Queensland Cancer Fund
  58. Cancer Council of New South Wales
  59. Cancer Council of Victoria
  60. Cancer Council of Tasmania
  61. Cancer Council of South Australia
  62. Cancer Foundation of Western Australia
  63. NHMRC [145684, 288704, 454508, 199600, 209057, 251533, 396414, 504711, 504715]
  64. United States Army Medical Research and Materiel Command [DAMD17-01-1-0729]
  65. Kuopio University Hospital
  66. Cancer Fund of North Savo
  67. Finnish Cancer Organizations
  68. Academy of Finland
  69. University of Eastern Finland
  70. Deutsche Krebshilfe e.V. [70-2892-BR I]
  71. Hamburg Cancer Society
  72. German Cancer Research Center
  73. Federal Ministry of Education and Research (BMBF) Germany [01KH0402]
  74. Ministero della Salute
  75. Ministero dell'Universita' e Ricerca [RBLAO3-BETH]
  76. Fondazione Italiana per la Ricerca sul Cancro
  77. Associazione Italiana per la Ricerca sul Cancro [4017]
  78. NIH [CA122340, CA128978, CA58860, CA92044]
  79. Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201]
  80. Cancer Council Victoria
  81. Norwegian Research council [155218/V40, 175240/S10]
  82. FUGE-NFR [181600/V11]
  83. Swizz Bridge Award
  84. Finnish Cancer Foundation
  85. University of Oulu
  86. Oulu University Hospital
  87. National Cancer Institute, Department of Health and Human Services, USA
  88. Yorkshire Cancer Research
  89. Breast Cancer Campaign
  90. Ministry of Health and Welfare, Republic of Korea [AO30001]
  91. Polish Foundation of Science
  92. Institute of Biomedical Sciences, Academia Sinica, Taiwan
  93. Lon V Smith Foundation [LVS39420]
  94. Dutch Cancer Society d [UL1997-1505]
  95. Biobanking and Biomolecular Resources Research Infrastructure [BBMRI-NL CP16]
  96. Institute of Cancer Research
  97. [PBZ_KBN_122/P05/2004]
  98. Cancer Research UK [11022, 10118] Funding Source: researchfish
  99. Cancer Research UK
  100. The Francis Crick Institute [10119, 10124] Funding Source: researchfish
  101. National Institute for Health Research [03/DHCS/03/G121/51] Funding Source: researchfish

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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 X 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 X 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. Hum Mutat 33:11231132, 2012. (c) 2012 Wiley Periodicals, Inc.

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