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Nat Genet. 2014 Aug;46(8):886-90. doi: 10.1038/ng.3041. Epub 2014 Jul 20.

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

Author information

  • 1Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • 21] 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.
  • 3Laboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
  • 41] 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.
  • 5Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
  • 61] 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.
  • 71] 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.
  • 81] 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.
  • 9Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
  • 101] 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.
  • 11Division of Cancer Epidemiology and Management, National Cancer Center, Gyeonggi-do, South Korea.
  • 12Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
  • 13Epidemiology Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan.
  • 141] 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.
  • 15Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
  • 16Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
  • 17Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.
  • 18Department of Surgery, Chonnam National University Medical School, Gwangju, South Korea.
  • 19Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
  • 20Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA.
  • 211] 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.
  • 221] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan.
  • 23Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
  • 24Department of Surgery, Nagano Matsushiro General Hospital, Nagano, Japan.
  • 25Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
  • 26Department of Surgery, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, South Korea.
  • 27Center for Breast Cancer, National Cancer Center, Gyeonggi-do, South Korea.
  • 281] 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.
  • 29Department of Breast Oncology, Aichi Cancer Center Central Hospital, Nagoya, Japan.
  • 30Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan.
  • 311] Saw Swee Hock School of Public Health, National University of Singapore, Singapore. [2] Department of Surgery, National University of Singapore, Singapore.
  • 321] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore.
  • 33Department of Medicine, University of Chicago, Chicago, Illinois, USA.
  • 34Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • 35Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

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.

PMID:
25038754
[PubMed - indexed for MEDLINE]
PMCID:
PMC4127632
Free PMC Article
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