Journal
HUMAN MOLECULAR GENETICS
Volume 20, Issue 23, Pages 4693-4706Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddr368
Keywords
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Funding
- Cancer Research UK [C1287/A12014, C490/A1102, C8197/A10123, C490/A10119, C490/A11020, C1287/A10118, C8197/A10865]
- National Health and Medical Research Council of Australia (NHMRC) [145604]
- NIH [CA102740-01A2]
- United States National Cancer Institute, NIH through Breast Cancer Family Registry and principal investigators Cancer Care Ontario [CA-95-011, CA69467]
- Columbia University [CA69398]
- Fox Chase Cancer Center [CA69631]
- Huntsman Cancer Institute [CA69446]
- Northern California Cancer Center [CA69417, U01 CA69417]
- University of Melbourne [CA69638, U01 CA69638]
- Victorian Government through Victorian Cancer Agency
- Victorian Breast Cancer Research Consortium
- Dutch Cancer Society [NKI 2001-2423
- 2007-3839, DDHK 2004-3124]
- Dutch National Genomics Initiative
- ELAN
- University of Erlangen
- Cancer Research UK
- Breakthrough Breast Cancer
- NIHR Biomedical Research Centre
- National Cancer Research Network (NCRN)
- Dietmar-Hopp Foundation
- Helmholtz Society
- Chief Physician Johan Boserup and Lise Boserup Fund
- Danish Medical Research Council
- Herlev Hospital
- Genome Spain Foundation
- Red Tematica de Investigacion Cooperativa en Cancer
- Asociacion Espanola Contra Cancer
- Fondo de Investigacion Sanitario [PI081120, PI081583]
- Medical Research Council (UK)
- German Human Genome Project
- Federal Ministry of Education and Research (BMBF) Germany [01KW9975/5, 01KW9976/8, 01KW9977/0, 01KW0114]
- Robert Bosch Foundation of Medical Research, Stuttgart, Germany
- Deutsche Krebshilfe e. V. [70492]
- GESBC genotyping in part by the state of Baden-Wurttemberg through the Medical Faculty of the University of Ulm [P.685]
- Hannover Medical School
- German Research Foundation [DFG] [Do761/2-1]
- Helsinki University
- Academy of Finland [132473, 127220]
- Finnish Cancer Society
- Sigrid Juselius Foundation
- German Federal Ministry of Research and Education [RUS08/017]
- Swedish Cancer Society
- Stockholm Cancer Society
- Gustav V Jubilee Foundation
- Bert von Kantzow Foundation
- NHMRC [145684, 288704, 454508, 209057, 251533, 396414, 504711, 504715]
- National Breast Cancer Foundation
- National Health and Medical Research Council (NHMRC)
- Queensland Cancer Fund
- Cancer Councils of New South Wales, Victoria, Tasmania and South Australia
- Cancer Foundation of Western Australia
- EVO [5654113, 5501, 100449]
- Stichting tegen Kanker [232-2008]
- FWO
- Ministero della Salute
- Ministero dell'Universita' e Ricerca [RBLAO3-BETH]
- Fondazione Italiana per la Ricerca sul Cancro
- Associazione Italiana per la Ricerca sul Cancro [4017]
- National Institutes of Health [R01 CA122340, R01-CA63464, R37-CA54281]
- NCI [P50 CA116201]
- Cancer Council Victoria
- Breast Cancer Research Foundation
- Normal and Carol Stone Genetics Research Fund
- Robert, the Robert and Kate Niehaus Clinical Genetics Initiative
- Lymphoma Foundation
- National Cancer Institute, National Institutes of Health [RFA-CA-06-503, CA-06-503]
- Breast Cancer Family Registry (BCFR)
- Principal Investigators, including Cancer Care Ontario [U01 CA69467]
- Cancer Prevention Institute of California (formerly the Northern California Cancer Center) [U01 CA69417]
- Finnish Cancer Foundation
- Academy of Finland
- University of Oulu
- Oulu University Hospital
- Cancer Care Ontario
- National Cancer Institute, Department of Health and Human Services, USA
- Agency for Science, Technology and Research of Singapore (A*STAR)
- US National Institute of Health (NIH)
- Susan G. Komen Breast Cancer Foundation
- Breast Cancer Campaign and Yorkshire Cancer Research
- NIHR Cambridge Biomedical Research Centre
- Cambridge Experimental Cancer Medicine Centre
- Polish Foundation of Science
- National Cancer Institute Thailand
- Institute of Biomedical Sciences
- Academia Sinica
- National Sciences Council
- Taiwan Biobank
- National Institutes of Health, National Cancer Institute [CA-58860]
- Lon V Smith Foundation [LVS-39420]
- Massachusetts [R01CA47305]
- Wisconsin [R01 CA47147]
- New Hampshire [R01CA69664]
- [PBZ_KBN_122/P05/2004]
- MRC [G0700491] Funding Source: UKRI
- Cancer Research UK [10118, 11022] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10124] Funding Source: researchfish
- Medical Research Council [G0700491] Funding Source: researchfish
- National Institute for Health Research [03/DHCS/03/G121/51] Funding Source: researchfish
Ask authors/readers for more resources
A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.
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