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Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

Cai Q 1 , Zhang B 1 , Sung H 2 , Low SK 3 , Kweon SS 4 , Lu W 5 Show all authors , Shi J 1 , Long J 1 , Wen W 1 , Choi JY 6 , Noh DY 7 , Shen CY 8 , Matsuo K 9 , Teo SH 10 , Kim MK 11 , Khoo US 12 , Iwasaki M 13 , Hartman M 14 , Takahashi A 3 , Ashikawa K 15 , Matsuda K 16 , Shin MH 17 , Park MH 18 , Zheng Y 5 , Xiang YB 19 , Ji BT 20 , Park SK 21 , Wu PE 22 , Hsiung CN 22 , Ito H 23 , Kasuga Y 24 , Kang P 25 , Mariapun S 10 , Ahn SH 26 , Kang HS 27 , Chan KY 28 , Man EP 12 , Iwata H 29 , Tsugane S 30 , Miao H 31 , Liao J 32 , Nakamura Y 33 , Kubo M 15 , DRIVE GAME-ON Consortium , Delahanty RJ 1 , Zhang Y 1 , Li B 34 , Li C 35 , Gao YT 19 , Shu XO 1 , Kang D 21 , Zheng W 1

Affiliations 

  • 1 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
  • 2 1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Genetic Epidemiology Branch, Division of Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA
  • 3 Laboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan
  • 4 1] Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea. [2] Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, South Korea
  • 5 Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China
  • 6 1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea
  • 7 1] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea. [2] Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea
  • 8 1] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan. [3] Department of Public Health, College of Public Health, China Medical University, Taichung, Taiwan
  • 9 Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan
  • 10 1] Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. [2] University Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 11 Division of Cancer Epidemiology and Management, National Cancer Center, Gyeonggi-do, South Korea
  • 12 Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China
  • 13 Epidemiology Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan
  • 14 1] Saw Swee Hock School of Public Health, National University of Singapore, Singapore. [2] Department of Surgery, National University of Singapore, Singapore. [3] Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
  • 15 Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan
  • 16 Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
  • 17 Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea
  • 18 Department of Surgery, Chonnam National University Medical School, Gwangju, South Korea
  • 19 Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China
  • 20 Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA
  • 21 1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea. [3] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea
  • 22 1] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan
  • 23 Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan
  • 24 Department of Surgery, Nagano Matsushiro General Hospital, Nagano, Japan
  • 25 Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia
  • 26 Department of Surgery, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, South Korea
  • 27 Center for Breast Cancer, National Cancer Center, Gyeonggi-do, South Korea
  • 28 1] Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China. [2] Department of Obstetrics and Gynaecology, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China
  • 29 Department of Breast Oncology, Aichi Cancer Center Central Hospital, Nagoya, Japan
  • 30 Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan
  • 31 1] Saw Swee Hock School of Public Health, National University of Singapore, Singapore. [2] Department of Surgery, National University of Singapore, Singapore
  • 32 1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore
  • 33 Department of Medicine, University of Chicago, Chicago, Illinois, USA
  • 34 Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
  • 35 Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Nat Genet, 2014 Aug;46(8):886-90.
PMID: 25038754 DOI: 10.1038/ng.3041

Abstract

In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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