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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
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dc.contributor.author | Mueller, Stefanie H. | - |
dc.contributor.author | Lai, Alvina G. | - |
dc.contributor.author | Valkovskaya, Maria | - |
dc.contributor.author | Michailidou, Kyriaki | - |
dc.contributor.author | Bolla, Manjeet K. | - |
dc.contributor.author | Wang, Qin | - |
dc.contributor.author | Dennis, Joe | - |
dc.contributor.author | Lush, Michael | - |
dc.contributor.author | Abu-Ful, Zomoruda | - |
dc.contributor.author | Ahearn, Thomas U. | - |
dc.contributor.author | Andrulis, Irene L. | - |
dc.contributor.author | Benitez, Javier | - |
dc.contributor.author | Bermisheva, Marina | - |
dc.contributor.author | Blomqvist, Carl | - |
dc.contributor.author | Bogdanova, Natalia V. | - |
dc.contributor.author | Bojesen, Stig E. | - |
dc.contributor.author | Bonanni, Bernardo | - |
dc.contributor.author | Brenner, Hermann | - |
dc.contributor.author | Brucker, Sara Y. | - |
dc.contributor.author | Buys, Saundra S. | - |
dc.contributor.author | Castelao, Jose E. | - |
dc.contributor.author | Li, Jingmei | - |
dc.contributor.author | Chan, Tsun L. | - |
dc.contributor.author | Chang-Claude, Jenny | - |
dc.contributor.author | Chanock, Stephen J. | - |
dc.contributor.author | Choi, Ji-Yeob | - |
dc.contributor.author | Chung, Wendy K. | - |
dc.contributor.author | Colonna, Sarah V. | - |
dc.contributor.author | Cornelissen, Sten | - |
dc.contributor.author | Couch, Fergus J. | - |
dc.contributor.author | Czene, Kamila | - |
dc.contributor.author | Daly, Mary B. | - |
dc.contributor.author | Linet, Martha | - |
dc.contributor.author | Devilee, Peter | - |
dc.contributor.author | Dörk, Thilo | - |
dc.contributor.author | Dossus, Laure | - |
dc.contributor.author | Dwek, Miriam | - |
dc.contributor.author | Eccles, Diana M. | - |
dc.contributor.author | Ekici, Arif B. | - |
dc.contributor.author | Eliassen, A. H. | - |
dc.contributor.author | Engel, Christoph | - |
dc.contributor.author | Evans, D. G. | - |
dc.contributor.author | Fasching, Peter A. | - |
dc.contributor.author | Lo, Wing-Yee | - |
dc.contributor.author | Fletcher, Olivia | - |
dc.contributor.author | Flyger, Henrik | - |
dc.contributor.author | Gago-Dominguez, Manuela | - |
dc.contributor.author | Gao, Yu-Tang | - |
dc.contributor.author | García-Closas, Montserrat | - |
dc.contributor.author | García-Sáenz, José A. | - |
dc.contributor.author | Genkinger, Jeanine | - |
dc.contributor.author | Gentry-Maharaj, Aleksandra | - |
dc.contributor.author | Grassmann, Felix | - |
dc.contributor.author | Guénel, Pascal | - |
dc.contributor.author | Long, Jirong | - |
dc.contributor.author | Gündert, Melanie | - |
dc.contributor.author | Haeberle, Lothar | - |
dc.contributor.author | Hahnen, Eric | - |
dc.contributor.author | Haiman, Christopher A. | - |
dc.contributor.author | Håkansson, Niclas | - |
dc.contributor.author | Hall, Per | - |
dc.contributor.author | Harkness, Elaine F. | - |
dc.contributor.author | Harrington, Patricia A. | - |
dc.contributor.author | Hartikainen, Jaana M. | - |
dc.contributor.author | Hartman, Mikael | - |
dc.contributor.author | Lophatananon, Artitaya | - |
dc.contributor.author | Hein, Alexander | - |
dc.contributor.author | Ho, Weang-Kee | - |
dc.contributor.author | Hooning, Maartje J. | - |
dc.contributor.author | Hoppe, Reiner | - |
dc.contributor.author | Hopper, John L. | - |
dc.contributor.author | Houlston, Richard S. | - |
dc.contributor.author | Howell, Anthony | - |
dc.contributor.author | Hunter, David J. | - |
dc.contributor.author | Huo, Dezheng | - |
dc.contributor.author | Ito, Hidemi | - |
dc.contributor.author | Mannermaa, Arto | - |
dc.contributor.author | Iwasaki, Motoki | - |
dc.contributor.author | Jakubowska, Anna | - |
dc.contributor.author | Janni, Wolfgang | - |
dc.contributor.author | John, Esther M. | - |
dc.contributor.author | Jones, Michael E. | - |
dc.contributor.author | Jung, Audrey | - |
dc.contributor.author | Kaaks, Rudolf | - |
dc.contributor.author | Kang, Daehee | - |
dc.contributor.author | Khusnutdinova, Elza K. | - |
dc.contributor.author | Kim, Sung-Won | - |
dc.contributor.author | Manoochehri, Mehdi | - |
dc.contributor.author | Kitahara, Cari M. | - |
dc.contributor.author | Koutros, Stella | - |
dc.contributor.author | Kraft, Peter | - |
dc.contributor.author | Kristensen, Vessela N. | - |
dc.contributor.author | Kubelka-Sabit, Katerina | - |
dc.contributor.author | Kurian, Allison W. | - |
dc.contributor.author | Kwong, Ava | - |
dc.contributor.author | Lacey, James V. | - |
dc.contributor.author | Lambrechts, Diether | - |
dc.contributor.author | Le Marchand, Loic | - |
dc.contributor.author | Margolin, Sara | - |
dc.contributor.author | Matsuo, Keitaro | - |
dc.contributor.author | Mavroudis, Dimitrios | - |
dc.contributor.author | Anton-Culver, Hoda | - |
dc.contributor.author | Menon, Usha | - |
dc.contributor.author | Muir, Kenneth | - |
dc.contributor.author | Murphy, Rachel A. | - |
dc.contributor.author | Nevanlinna, Heli | - |
dc.contributor.author | Newman, William G. | - |
dc.contributor.author | Niederacher, Dieter | - |
dc.contributor.author | O’Brien, Katie M. | - |
dc.contributor.author | Obi, Nadia | - |
dc.contributor.author | Offit, Kenneth | - |
dc.contributor.author | Olopade, Olufunmilayo I. | - |
dc.contributor.author | Antonenkova, Natalia N. | - |
dc.contributor.author | Olshan, Andrew F. | - |
dc.contributor.author | Olsson, Håkan | - |
dc.contributor.author | Park, Sue K. | - |
dc.contributor.author | Patel, Alpa V. | - |
dc.contributor.author | Patel, Achal | - |
dc.contributor.author | Perou, Charles M. | - |
dc.contributor.author | Peto, Julian | - |
dc.contributor.author | Pharoah, Paul D. P. | - |
dc.contributor.author | Plaseska-Karanfilska, Dijana | - |
dc.contributor.author | Presneau, Nadege | - |
dc.contributor.author | Arndt, Volker | - |
dc.contributor.author | Rack, Brigitte | - |
dc.contributor.author | Radice, Paolo | - |
dc.contributor.author | Ramachandran, Dhanya | - |
dc.contributor.author | Rashid, Muhammad U. | - |
dc.contributor.author | Rennert, Gad | - |
dc.contributor.author | Romero, Atocha | - |
dc.contributor.author | Ruddy, Kathryn J. | - |
dc.contributor.author | Ruebner, Matthias | - |
dc.contributor.author | Saloustros, Emmanouil | - |
dc.contributor.author | Sandler, Dale P. | - |
dc.contributor.author | Aronson, Kristan J. | - |
dc.contributor.author | Sawyer, Elinor J. | - |
dc.contributor.author | Schmidt, Marjanka K. | - |
dc.contributor.author | Schmutzler, Rita K. | - |
dc.contributor.author | Schneider, Michael O. | - |
dc.contributor.author | Scott, Christopher | - |
dc.contributor.author | Shah, Mitul | - |
dc.contributor.author | Sharma, Priyanka | - |
dc.contributor.author | Shen, Chen-Yang | - |
dc.contributor.author | Shu, Xiao-Ou | - |
dc.contributor.author | Simard, Jacques | - |
dc.contributor.author | Augustinsson, Annelie | - |
dc.contributor.author | Surowy, Harald | - |
dc.contributor.author | Tamimi, Rulla M. | - |
dc.contributor.author | Tapper, William J. | - |
dc.contributor.author | Taylor, Jack A. | - |
dc.contributor.author | Teo, Soo H. | - |
dc.contributor.author | Teras, Lauren R. | - |
dc.contributor.author | Toland, Amanda E. | - |
dc.contributor.author | Tollenaar, Rob A. E. M. | - |
dc.contributor.author | Torres, Diana | - |
dc.contributor.author | Torres-Mejía, Gabriela | - |
dc.contributor.author | Baert, Thais | - |
dc.contributor.author | Troester, Melissa A. | - |
dc.contributor.author | Truong, Thérèse | - |
dc.contributor.author | Vachon, Celine M. | - |
dc.contributor.author | Vijai, Joseph | - |
dc.contributor.author | Weinberg, Clarice R. | - |
dc.contributor.author | Wendt, Camilla | - |
dc.contributor.author | Winqvist, Robert | - |
dc.contributor.author | Wolk, Alicja | - |
dc.contributor.author | Wu, Anna H. | - |
dc.contributor.author | Yamaji, Taiki | - |
dc.contributor.author | Freeman, Laura E. B. | - |
dc.contributor.author | Yang, Xiaohong R. | - |
dc.contributor.author | Yu, Jyh-Cherng | - |
dc.contributor.author | Zheng, Wei | - |
dc.contributor.author | Ziogas, Argyrios | - |
dc.contributor.author | Ziv, Elad | - |
dc.contributor.author | Dunning, Alison M. | - |
dc.contributor.author | Easton, Douglas F. | - |
dc.contributor.author | Hemingway, Harry | - |
dc.contributor.author | Hamann, Ute | - |
dc.contributor.author | Kuchenbaecker, Karoline B. | - |
dc.contributor.author | Beckmann, Matthias W. | - |
dc.contributor.author | Behrens, Sabine | - |
dc.date.accessioned | 2023-02-27T01:11:40Z | - |
dc.date.available | 2023-02-27T01:11:40Z | - |
dc.date.issued | 2023-01-26 | - |
dc.identifier.citation | Genome Medicine, 15(1):7 | ko_KR |
dc.identifier.issn | 1756-994X | - |
dc.identifier.uri | https://hdl.handle.net/10371/189108 | - |
dc.description.abstract | Background
Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. Methods We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. Results In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10−6) and AC058822.1 (P = 1.47 × 10−4), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. Conclusions Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10−5), demonstrating the importance of diversifying study cohorts. | ko_KR |
dc.description.sponsorship | This result is part of a project that has received funding from the European
Research Council (ERC) under the European Unions Horizon 2020 research and innovation programme (Grant agreement No. 948561). BCAC is funded by the European Unions Horizon 2020 Research and Innova‑ tion Programme (grant numbers 634935 and 633,784 for BRIDGES and B-CAST respectively), and the PERSPECTIVE I&I project, funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Mueller et al. Genome Medicine (2023) 15:7 Page 12 of 18 Research, the Ministère de lÉconomie et de lInnovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation. The EU Horizon 2020 Research and Innovation Programme funding source had no role in study design, data collection, data analysis, data interpretation, or writing of the report. Additional funding for BCAC is provided via the Confuence project which is funded with intramural funds from the National Cancer Institute Intramural Research Program, National Institutes of Health. Genotyping of the OncoArray was funded by the NIH Grant U19 CA148065, and Cancer UK Grant C1287/A16563 and the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH-129344), and the Ministère de lÉconomie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI-701 grant, and the Quebec Breast Cancer Foundation. Funding for iCOGS came from: the European Communitys Seventh Framework Programme under grant agreement n° 223,175 (HEALTH-F2-2009–223,175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112—the GAME-ON initiative), the Department of Defence (W81XWH-10–1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, and Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The BRIDGES panel sequencing was supported by the European Union Horizon 2020 research and innovation program BRIDGES (grant number, 634,935) and the Wellcome Trust (v203477/Z/16/Z). The ABCS study was supported by the Dutch Cancer Society [grants NKI 2007–3839; 2009 4363]. The Australian Breast Cancer Tissue Bank (ABCTB) was supported by the National Health and Medical Research Council of Australia, The Cancer Institute NSW and the National Breast Cancer Foundation. The ACP study is funded by the Breast Cancer Research Trust, UK. KM and AL are supported by the NIHR Manchester Biomedical Research Centre, the Allan Turing Institute under the EPSRC grant EP/N510129/1. The AHS study is supported by the intramural research program of the National Institutes of Health, the National Cancer Institute (grant number Z01-CP010119), and the National Institute of Environmental Health Sciences (grant number Z01-ES049030). The work of the BBCC was partly funded by ELAN-Fond of the University Hospital of Erlangen. The BBCS is funded by Cancer Research UK and Breast Cancer Now and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). For the BCFR-NY, BCFR-ON, BCFR-PA, BCFR-UT this work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily refect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. The BCINIS study is supported in part by the Breast Cancer Research Foundation (BCRF). The BREast Oncology GAlician Network (BREOGAN) is funded by Acción Estratégica de Salud del Instituto de Salud Carlos III FIS PI12/02125/Cofnanciado and FEDER PI17/00918/Cofnanciado FEDER; Acción Estratégica de Salud del Instituto de Salud Carlos III FIS Intrasalud (PI13/01136); Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investiga‑ cion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo-SERGAS, Instituto de Salud Carlos III, Spain; Grant 10CSA012E, Consellería de Industria Programa Sectorial de Investigación Aplicada, PEME I+D e I+D Suma del Plan Gallego de Investigación, Desarrollo e Innovación Tecnológica de la Consellería de Industria de la Xunta de Galicia, Spain; Grant EC11-192. Fomento de la Investigación Clínica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain; and Grant FEDER-Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain. The BSUCH study was supported by the Dietmar-Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). The CAMA study was funded by Consejo Nacional de Ciencia y Tecnología (CONACyT) (SALUD2002-C01-7462). Sample collection and processing was funded in part by grants from the National Cancer Institute (NCI R01CA120120 and K24CA169004). CBCS is funded by the Canadian Cancer Society (grant # 313,404) and the Canadian Institutes of Health Research. CCGP is supported by funding from the University of Crete. The CECILE study was supported by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale contre le Cancer, Agence Nationale de Sécurité Sanitaire, de lAlimentation, de lEnvironnement et du Travail (ANSES), Agence Nationale de la Recherche (ANR). The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council, and Herlev and Gentofte Hospital. COLBCCC is supported by the German Cancer Research Center (DKFZ), Heidelberg, Germany. Diana Torres was in part supported by a postdoctoral fellowship from the Alexander von Humboldt Foundation. The American Cancer Society funds the creation, maintenance, and updating of the CPS-II cohort. The California Teachers Study (CTS) and the research reported in this publication were supported by the National Cancer Institute of the National Institutes of Health under award number U01-CA199277; P30-CA033572; P30-CA023100; UM1-CA164917; and R01-CA077398. The content is solely the responsibility of the authors and does not necessarily represent the ofcial views of the National Cancer Institute or the National Institutes of Health. The collection of cancer incidence data used in the California Teachers Study was supported by the California Department of Public Health pursuant to California Health and Safety Code Section 103,885; Centers for Disease Control and Preventions National Program of Cancer Registries, under cooperative agreement 5NU58DP006344; the National Cancer Institutes Surveillance, Epidemiology and End Results Program under contract HHSN261201800032I awarded to the University of California, San Francisco, contract HHSN261201800015I awarded to the University of Southern California, and contract HHSN261201800009I awarded to the Public Health Institute. The opinions, fndings, and conclusions expressed herein are those of the author(s) and do not necessarily refect the ofcial views of the State of California, Department of Public Health, the National Cancer Institute, the National Institutes of Health, the Centers for Disease Control and Prevention or their Contractors and Subcontractors, or the Regents of the University of California, or any of its programs. The University of Westminster curates the DietCompLyf database funded by Against Breast Cancer Registered Charity No. 1121258 and the NCRN. The coordination of EPIC is fnancially supported by the European Commission (DG-SANCO) and the International Agency for Research on Cancer. The national cohorts are supported by: Ligue Contre le Cancer, Institut Gustave Roussy, Mutuelle Générale de lEducation Nationale, Institut National de la Santé et de la Recherche Médicale (INSERM) (France); German Cancer Aid, German Cancer Research Center (DKFZ), Federal Ministry of Education and Research (BMBF) (Germany); the Hellenic Health Foundation, the Stavros Niarchos Foundation (Greece); Associazione Italiana per la Ricerca sul Cancro-AIRC-Italy and National Research Council (Italy); Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands (The Netherlands); Health Research Fund (FIS), PI13/00061 to Granada, PI13/01162 to EPIC-Murcia, Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, ISCIII RETIC (RD06/0020) (Spain); Cancer Research UK (14,136 to EPIC-Norfolk; C570/A16491 and C8221/A19170 to EPIC-Oxford), Medical Research Council (1,000,143 to EPIC-Norfolk, MR/M012190/1 to EPIC-Oxford) (United Kingdom). Where authors are identifed as personnel of the International Agency for Research on Cancer / World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy or views of the International Agency for Research on Cancer / World Health Organization. The ESTHER study was supported by a grant from the Baden Württemberg Ministry of Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid (Deutsche Krebshilfe). FHRISK and PROCAS are funded from NIHR grant PGfAR 0707–10,031. DGE, AH and WGN are supported by the NIHR Manchester Biomedical Research Centre (IS-BRC-1215–20,007). The GC-HBOC (German Consortium of Hereditary Breast and Ovarian Cancer) is supported by the German Cancer Aid (grant no 110837, coordinator: Rita K. Schmutzler, Cologne). This work was also funded by the European Regional Development Fund and Free State of Saxony, Germany (LIFE—Leipzig Research Centre for Civilization Diseases, project numbers 713–241,202, 713–241,202, 14,505/2470, 14,575/2470). The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany. The GEPARSIXTO study was conducted by the German Breast Group GmbH. The GESBC was supported by the Deutsche Krebshilfe e. V. [70492] and the German Cancer Research Center Mueller et al. Genome Medicine (2023) 15:7 Page 13 of 18 (DKFZ). The HABCS study was supported by the Claudia von Schilling Foundation for Breast Cancer Research, by the Lower Saxonian Cancer Society, and by the Rudolf Bartling Foundation. The HEBCS was fnancially supported by the Helsinki University Hospital Research Fund, the Sigrid Juselius Foundation and the Cancer Foundation Finland. The HERPACC was supported by MEXT Kakenhi (No. 170150181 and 26,253,041) from the Ministry of Education, Science, Sports, Culture and Technology of Japan, by a Grant-in-Aid for the Third Term Comprehensive 10-Year Strategy for Cancer Control from Ministry Health, Labour and Welfare of Japan, by Health and Labour Sciences Research Grants for Research on Applying Health Technology from Ministry Health, Labour and Welfare of Japan, by National Cancer Center Research and Development Fund, and "Practical Research for Innovative Cancer Control (15ck0106177h0001 and 20ck0106553)" from Japan Agency for Medical Research and development, AMED, and Cancer Bio Bank Aichi. The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation. The HUBCS was supported by a grant from the German Federal Ministry of Research and Education (RUS08/017), B.M. was supported by grant 17–44-020,498, 17–29-06,014 of the Russian Foundation for Basic Research, D.P. was supported by grant 18–29-09,129 of the Russian Foundation for Basic Research, E.K was supported by the program for support the bioresource collections №007–030,164/2 and by the megagrant from the Government of Russian Federation (2020–220-08–2197), and study was performed as part of the assignment of the Ministry of Science and Higher Education of Russian Federation (№AAAA-A16-116,020,350,032–1). Financial support for KARBAC was provided through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet, the Swedish Cancer Society, The Gustav V Jubilee foundation and Bert von Kantzows foundation. The KARMA study was supported by Märit and Hans Rausings Initiative Against Breast Cancer. The KBCP was fnancially supported by the special Government Funding (VTR) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, and by the strategic funding of the University of Eastern Finland. The KOHBRA study was partially supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Develop‑ ment Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 1,020,350; 1,420,190). LMBC is supported by the Stichting tegen Kanker. DL is supported by the FWO. The MABCS study is funded by the Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", MASA. The MARIE study was supported by the Deutsche Krebshilfe e.V. [70–2892-BR I, 106,332, 108,253, 108,419, 110,826, 110828], the Hamburg Cancer Society, the German Cancer Research Center (DKFZ) and the Federal Ministry of Education and Research (BMBF) Germany [01KH0402]. MBCSG is supported by grants from the Italian Association for Cancer Research (AIRC). The MCBCS was supported by the NIH grants R35CA253187, R01CA192393, R01CA116167, R01CA176785 a NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer [P50CA116201], and the Breast Cancer Research FoundationThe MEC was supported by NIH grants CA63464, CA54281, CA098758, CA132839 and CA164973. The MISS study is supported by funding from ERC-2011–294,576 Advanced grant, Swedish Cancer Society, Swedish Research Council, Local hospital funds, Berta Kamprad Foundation, Gunnar Nilsson. The MMHS study was supported by NIH grants CA97396, CA128931, CA116201, CA140286 and CA177150. MSKCC is supported by grants from the Breast Cancer Research Foundation and Robert and Kate Niehaus Clinical Cancer Genetics Initiative. MYBRCA is funded by research grants from the Wellcome Trust (v203477/ Z/16/Z), the Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Malaysia. MYMAMMO is supported by research grants from Yayasan Sime Darby LPGA Tournament and Malaysian Ministry of Higher Education (RP046B-15HTM). The NBCS has received funding from the K.G. Jebsen Centre for Breast Cancer Research; the Research Council of Norway grant 193,387/V50 (to A-L Børresen-Dale and V.N. Kristensen) and grant 193,387/H10 (to A-L Børresen-Dale and V.N. Kristensen), South Eastern Norway Health Authority (grant 39,346 to A-L Børresen-Dale) and the Norwegian Cancer Society (to A-L Børresen-Dale and V.N. Kristensen). The NBHS was supported by NIH grant R01CA100374. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The Northern California Breast Cancer Family Registry (NC-BCFR) was supported by grant U01CA164920 from the USA National Cancer Institute of the National Institutes of Health. The content of this manuscript does not necessarily refect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The Carolina Breast Cancer Study (NCBCS) was funded by Komen Foundation, the National Cancer Institute (P50 CA058223, U54 CA156733, U01 CA179715), and the North Carolina University Cancer Research Fund. The NGOBCS was supported by the National Cancer Center Research and Development Fund (Japan). The NHS was supported by NIH grants P01 CA87969, UM1 CA186107, and U19 CA148065. The NHS2 was supported by NIH grants UM1 CA176726 and U19 CA148065. The ORIGO study was supported by the Dutch Cancer Society (RUL 1997–1505) and the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL CP16). The PBCS was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. Genotyping for PLCO was supported by the Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics. The PLCO is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics and supported by contracts from the Division of Cancer Prevention, National Cancer Institute, National Institutes of Health. The POSH study is funded by Cancer Research UK (grants C1275/A11699, C1275/C22524, C1275/A19187, C1275/A15956 and Breast Cancer Campaign 2010PR62, 2013PR044. The SBCGS was supported primarily by NIH grants R01CA64277, R01CA148667, UMCA182910, and R37CA70867. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The scientifc development and funding of this project were, in part, supported by the Genetic Associations and Mechanisms in Oncology (GAME-ON) Network U19 CA148065. The SBCS was supported by Shefeld Experimental Cancer Medicine Centre and Breast Cancer Now Tissue Bank. SEARCH is funded by Cancer Research UK [C490/A10124, C490/A16561] and supported by the UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge. The University of Cambridge has received salary support for PDPP from the NHS in the East of England through the Clinical Academic Reserve. SEBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012–0,000,347). SGBCC is funded by the National Research Foundation Singapore, NUS start-up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant, Breast Cancer Prevention Programme, Asian Breast Cancer Research Fund and the NMRC Clinician Scientist Award (SI Category). Population-based controls were from the Multi-Ethnic Cohort (MEC) funded by grants from the Ministry of Health, Singapore, National University of Singapore and National University Health System, Singapore. The Sister Study (SISTER) is supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01-ES044005 and Z01-ES049033). The Two Sister Study (2SISTER) was supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01-ES044005 and Z01-ES102245), and, also by a grant from Susan G. Komen for the Cure, grant FAS0703856. SKKDKFZS is supported by the DKFZ. The SMC is funded by the Swedish Cancer Foundation and the Swedish Research Council (VR 2017–00,644) grant for the Swedish Infrastruc‑ ture for Medical Population-based Life-course Environmental Research (SIMPLER). The TNBCC was supported by: a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a grant from the Breast Cancer Research Foundation, a generous gift from the David F. and Margaret T. Grohne Family Foundation. The TWBCS is supported by the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan. The UCIBCS component of this research was supported by the NIH [CA58860, CA92044] and the Lon V Smith Foundation [LVS39420]. The UKBGS is funded by Breast Cancer Now and the Institute of Cancer Research (ICR), London. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. The UKOPS study was funded by The Eve Appeal (The Oak Foundation) and supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre with contribution to authors salary through MRC core funding MC_UU_00004/01. The USRT Study was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The WAABCS study was supported by grants from the National Cancer Institute of the National Institutes of Health (R01 CA89085 and P50 CA125183 and the D43 TW009112 grant), Susan G. Komen (SAC110026), the Dr. Ralph and Marian Falk Medical Research Trust, and the Avon Foundation for Women. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Breast cancer susceptibility | - |
dc.subject | Diverse ancestry | - |
dc.subject | Rare variants | - |
dc.subject | Gene regulation | - |
dc.subject | Genome-wide association study | - |
dc.title | Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry | ko_KR |
dc.type | Article | ko_KR |
dc.identifier.doi | 10.1186/s13073-022-01152-5 | ko_KR |
dc.citation.journaltitle | Genome Medicine | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2023-01-29T04:26:01Z | - |
dc.citation.endpage | 18 | ko_KR |
dc.citation.number | 7 | ko_KR |
dc.citation.startpage | 1 | ko_KR |
dc.citation.volume | 15 | ko_KR |
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