Journal
SCIENTIFIC REPORTS
Volume 11, Issue 1, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41598-021-99409-3
Keywords
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Categories
Funding
- European Union's Horizon 2020 Research and Innovation Programme [634935, 633784]
- PERSPECTIVE I&I - Government of Canada through Genome Canada
- Canadian Institutes of Health Research
- Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec
- Quebec Breast Cancer Foundation
- National Cancer Institute Intramural Research Program, National Institutes of Health
- NIH [U19 CA148065, R36CA253187, CA192393, CA116167, CA176785, CA63464, CA54281, CA098758, CA132839, CA164973, CA97396, CA128931, CA116201, CA140286, CA177150, P01 CA87969, UM1 CA186107, UM1 CA176726, CA58860, CA92044]
- Cancer UK Grant [C1287/A16563]
- PERSPECTIVE project - Government of Canada through Genome Canada
- Canadian Institutes of Health Research [GPH-129344]
- Ministere de l'Economie, Science et Innovation du Quebec through Genome Quebec
- PSRSIIRI-701 grant
- European Community's Seventh Framework Programme [223175 (HEALTH-F2-2009-223175)]
- Cancer Research UK [C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565, C490/A10124, C490/A16561]
- National Institutes of Health [CA128978]
- Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]
- Department of Defence [W81XWH-10-1-0341]
- Canadian Institutes of Health Research (CIHR)
- Komen Foundation for the Cure
- Breast Cancer Research Foundation
- Ovarian Cancer Research Fund
- National Cancer Institute (USA) [UM1 CA164920]
- National Health and Medical Research Council of Australia (Australia)
- New South Wales Cancer Council (Australia)
- Victorian Health Promotion Foundation (Australia)
- Victorian Breast Cancer Research Consortium
- Dutch Cancer Society [NKI 2007-3839, 2009-4363, 2015-7632, RUL 1997-1505, DDHK 2004-3124, DDHK 2009-4318]
- ELAN-Fond of the University Hospital of Erlangen
- Cancer Research UK
- Breast Cancer Now
- NHS
- National Cancer Institute [UM1 CA164920, P50 CA058223, U54 CA156733, U01 CA179715]
- NIHR Comprehensive Biomedical Research Centre
- Guy's & St. Thomas' NHS Foundation Trust
- King's College London, United Kingdom
- Oxford Biomedical Research Centre
- Accion Estrategica de Salud del Instituto de Salud Carlos III/FEDER [FIS PI12/02125, FIS PI17/00918]
- Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud [PI13/01136]
- Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo-SERGAS, Instituto de Salud Carlos III, Spain
- Conselleria de Industria Programa Sectorial de Investigacion Aplicada, PEME I + D e I + D Suma del Plan Gallego de Investigacion, Desarrollo e Innovacion Tecnologica de la Conselleria de Industria de la Xunta de Galicia, Spain [10CSA012E]
- Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain [EC11-192]
- Grant FEDER-Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain
- Dietmar-Hopp Foundation
- Helmholtz Society
- German Cancer Research Center (DKFZ)
- University of Crete
- Chief Physician Johan Boserup and Lise Boserup Fund
- Danish Medical Research Council
- Herlev and Gentofte Hospital
- American Cancer Society
- European Commission (DG-SANCO)
- International Agency for Research on Cancer
- Ligue Contre le Cancer (France)
- Institut Gustave Roussy (France)
- Mutuelle Generale de l'Education Nationale (France)
- Institut National de la Sante et de la Recherche Medicale (INSERM) (France)
- German Cancer Aid, German Cancer Research Center (DKFZ) (Germany)
- Federal Ministry of Education and Research (BMBF) (Germany)
- Hellenic Health Foundation (Greece)
- Stavros Niarchos Foundation (Greece)
- Associazione Italiana per la Ricerca sul Cancro-AIRC-Italy (Italy)
- National Research Council (Italy)
- Dutch Ministry of Public Health, Welfare and Sports (VWS) (The Netherlands)
- Netherlands Cancer Registry (NKR) (The Netherlands)
- LK Research Funds (The Netherlands)
- Dutch Prevention Funds (The Netherlands)
- Dutch ZON (Zorg Onderzoek Nederland) (The Netherlands)
- World Cancer Research Fund (WCRF) (The Netherlands)
- Statistics Netherlands (The Netherlands)
- Health Research Fund (FIS) (Spain) [PI13/00061, PI13/01162]
- Regional Government of Andalucia (Spain)
- Regional Government of Asturias (Spain)
- Regional Government of Basque Country (Spain)
- Regional Government of Murcia (Spain)
- Regional Government of Navarra (Spain)
- ISCIII RETIC (Spain) [RD06/0020]
- Cancer Research UK (United Kingdom) [14136, C570/A16491, C8221/A19170]
- Medical Research Council (United Kingdom) [1000143, MR/M012190/1]
- Baden Wurttemberg Ministry of Science, Research and Arts
- German Cancer Aid (Deutsche Krebshilfe)
- German Cancer Aid [110837]
- European Regional Development Fund
- Free State of Saxony, Germany (LIFE-Leipzig Research Centre for Civilization Diseases) [713-241202, 14505/2470, 14575/2470]
- Federal Ministry of Education and Research (BMBF) Germany [01KW9975/5, 01KW9976/8, 01KW9977/0, 01KW0114, 01KH0402]
- Robert Bosch Foundation, Stuttgart
- Deutsches Krebsforschungszentrum (DKFZ), Heidelberg
- Institute for Prevention and Occupational Medicine of the German Social Accident Insurance
- Institute of the Ruhr University Bochum (IPA), Bochum
- Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany
- Deutsche Krebshilfe e. V. [70492]
- Claudia von Schilling Foundation for Breast Cancer Research
- Helsinki University Hospital Research Fund
- Finnish Cancer Society
- Sigrid Juselius Foundation
- Ministry of Science and Higher Education of Russian Federation [2020-220-08-2197]
- Stockholm County Council
- Karolinska Institutet
- Swedish Cancer Society
- Gustav V Jubilee foundation
- Bert von Kantzows foundation
- Marit and Hans Rausings Initiative Against Breast Cancer
- special Government Funding (EVO) of Kuopio University Hospital Grants
- Cancer Fund of North Savo
- Finnish Cancer Organizations
- University of Eastern Finland
- Stichting tegen Kanker
- Deutsche Krebshilfe e.V. [70-2892-BR I, 106332, 108253, 108419, 110826, 110828]
- Hamburg Cancer Society
- Italian Association for Cancer Research (AIRC)
- NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201]
- VicHealth and Cancer Council Victoria
- Australian National Health and Medical Research Council [209057, 396414, 1074383]
- Swedish Research Council
- Local hospital funds
- Berta Kamprad Foundation
- K.G. Jebsen Centre for Breast Cancer Research
- Research Council of Norway Grant [193387/V50, 193387/H10]
- South Eastern Norway Health Authority [39346]
- Norwegian Cancer Society
- Komen Foundation
- North Carolina University Cancer Research Fund
- Finnish Cancer Foundation
- Academy of Finland [250083, 122715]
- Academy of Finland (Center of Excellence Grant) [251314]
- University of Oulu
- University of Oulu Support Foundation
- special Governmental EVO funds for Oulu University Hospital-based research activities
- Biobanking and Biomolecular Resources Research Infrastructure [BBMRI-NL CP16]
- Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA
- Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics
- Intramural Research Program of the Division of Cancer Epidemiology and Genetics
- Division of Cancer Prevention, National Cancer Institute, National Institutes of Health
- Agency for Science, Technology and Research of Singapore (A*STAR)
- US National Institute of Health (NIH)
- Susan G. Komen Breast Cancer Foundation
- UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge
- DKFZ
- Swedish Cancer Foundation
- Swedish Research Council (SIMPLER) [VR 2017-00644]
- French Ministry of Health [PHRC K 2011]
- Lon V Smith Foundation [LVS39420]
- Breast Cancer Now, London
- Institute of Cancer Research (ICR), London
- [ERC-2011-294576]
- [PBZ_KBN_122/P05/2004]
- [002/RID/2018/19]
Ask authors/readers for more resources
Two germline variants on chromosome 1 were significantly associated with breast cancer-specific survival, however, validation in a smaller replication dataset was not successful. Larger replication studies are needed to confirm the identified associations.
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 x 10(-8) and 4.42 x 10(-8)). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
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