Please use this identifier to cite or link to this item: https://covid-19.conacyt.mx/jspui/handle/1000/334
Identifying 31 novel breast cancer susceptibility loci using data from genome-wide association studies conducted in Asian and European women
Kelvin Y.K. Chan
Kristan J. Aronson
Ran Tao
Bingshan Li
Xingyi Guo
Jiajun Shi
Yaohua Yang
Xiang Shu
Qin Wang
Roger L. Milne
Ying Zheng
Ji-Yeob Choi
Taiki Yamaji
Yong-Bing Xiang
Anna H. Wu
Sue K. Park
Wei Zheng
Manjeet K. Bolla
Michiaki Kubo
Jacques Simard
Montserrat Garcia-Closas
Paul D.P. Pharoah
Soo-Hwang Teo
Alison M. Dunning
Douglas F. Easton
Daehee Kang
Xiao-ou Shu
Ui Soon Khoo
Yoshio Kasuga
Hiroji Iwata
Motoki Iwasaki
Hidemi Ito
Esther M. John
Mi-Kyung Kim
Ava Kwong
Qiuyin Cai
Allison W. Kurian
Tsun L. Chan
Yu-Tang Gao
Jirong Long
Weang-Kee Ho
Mikael Hartman
Atsushi Takahashi
Chiuchen Tseng
Shoichiro Tsugane
John J. Spinelli
Keitaro Matsuo
Koichi Matsuda
Shivaani Mariapun
Siew-Kee Low
Artitaya Lophatananon
Jingmei Li
Kenneth Muir
Boyoung Park
Min-Ho Shin
Chen-Yang Shen
Min-Ho Park
Sun-Seog Kweon
Dong-Young Noh
Joe Dennis
Novel Coronavirus
Acceso Abierto
Atribución-NoComercial-SinDerivadas
10.1101/19003855
Common genetic variants in 183 loci have been identified in relation to breast cancer risk in genome-wide association studies (GWAS). These risk variants combined explain only a relatively small proportion of breast cancer heritability, particularly in Asian populations. To search for additional genetic susceptibility loci for breast cancer, we performed a meta-analysis of data from GWAS conducted in Asians (24,206 cases and 24,775 controls). Variants showing an association with breast cancer risk at P < 0.01 were evaluated in GWAS conducted in European women including 122,977 cases and 105,974 controls. In the combined analysis of data from both Asian and European women, the lead variant in 28 loci not previously reported showed an association with breast cancer risk at P < 5 x10-8. In the meta-analysis of all GWAS data from Asian and European descendants, we identified SNPs in three additional loci in association with breast cancer risk at P < 5 x10-8. The associations for 10 of these loci were replicated in an independent sample of 16,787 cases and 16,680 controls of Asian women (P < 0.05). Expression quantitative trait locus (eQTL) and gene-based analyses provided evidence for the possible involvement of the YBEY, MAN2C1, SNUPN, TBX1, SEMA4A, STC1, MUTYH, LOXL2, and LINC00886 genes underlying the associations observed in eight of these 28 newly identified risk loci. In addition, we replicated the association for 78 of the 166 previously reported risk variants at P < 0.05 in women of Asian descent using GWAS data. These findings improve our understanding of breast cancer genetics and etiology and extend to Asian populations previous findings from studies of European women. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agents. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. ABCC Studies This research was supported in part by the US National Institutes of Health grants R01CA124558, R01CA148667, R01CA064277, R37CA070867, UM1CA182910 (to W. Z.); R01CA118229, R01CA092585 (to X.-O. S.); R01CA158473 (to W. Z.); R01CA122756 (to Q. C.); and R01CA137013 (to J. Long), Department of Defense Idea Awards BC011118 (to X.-O. S.) and BC050791 (to Q. C.), and Ingram Professorship and Research Reward funds (to W. Z.). Sample preparation and genotyping assays at Vanderbilt were conducted at the Survey and Biospecimen Shared Resources and Vanderbilt Microarray Shared Resource, which are supported in part by the Vanderbilt-Ingram Cancer Center (P30CA068485). Data analyses were conducted using the Advanced Computing Center for Research and Education (ACCRE) at Vanderbilt University. The 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 (2011-0001564). KOHBRA/KOGES was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea (#1020350). Studies participating in the ABCC include (Principal Investigator, grant support): the Shanghai Breast Cancer Study (W.Z. and X.-O. S., R01CA064277), the Shanghai Women’s Health Study (W.Z., R37CA070867), the Shanghai Breast Cancer Survival Study (X.-O. S., R01CA118229), the Shanghai Endometrial Cancer Study (X.-O. S., R01CA092585, controls only), the Seoul Breast Cancer Study [D.K., BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012-0000347)], the BioBank Japan Project (S.-K. L., the Ministry of Education, Culture, Sports, Sciences and Technology from the Japanese Government); the Hwasun Cancer Epidemiology Study-Breast (S.-S. K., the Biobank of Chonnam National University Hwasun Hospital, a member of the Korea Biobank Network, # 07SA2014020 ), the Nagano Breast Cancer Study (M.I., Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas, 17015049 and for Scientific Research on Innovative Areas, 221S0001, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan), the Hospital-based Epidemiologic Research Program at Aichi Cancer Center [Grant-in-Aid for Scientific Research on Priority Areas of Cancer (No. 17015018) from the Japanese Ministry of Education, Culture, Sports, Science and Technology and the “Practical Research for Innovative Cancer Control (15ck0106177h0001)” from the Japan Agency for Medical Research and development, AMED (K. Matsuo), and Cancer Bio Bank Aichi. BCAC Asian studies Studies participating in the BCAC Asian studies include (Principal Investigator, grant support): the Asia Cancer Program (K. Muir and A.L., the NIHR Manchester Biomedical Research Centre and by the ICEP and CRUK, # C18281/A19169); the Canadian Breast Cancer Study (K.A. and J. Spinelli, the Canadian Cancer Society, # 313404); the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (K. Matsuo, the HERPACC was supported by MEXT Kakenhi [No. 170150181 and 26253041] 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] from Japan Agency for Medical Research and development, AMED, and Cancer Bio Bank Aichi); the Hong Kong Hereditary Breast Cancer (A. Kwong); the Korean Hereditary Breast Cancer (S.K.P., the National R&D Program for Cancer Control, Ministry of Health and Welfare, Republic of Korea [#1020350 and #1420190]); the Los Angeles County Asian-American Breast Cancer Case-Control Study (A.H.W., the California Breast Cancer Research Program [1RB-0287, 3PB-0102, 5PB-0018, 10PB-0098]. Incident breast cancer cases were collected by the USC Cancer Surveillance Program (CSP) which is supported under subcontract by the California Department of Health. The CSP is also part of the National Cancer Institute's Division of Cancer Prevention and Control Surveillance, Epidemiology, and End Results Program, under contract number N01CN25403); the Malaysian Breast Cancer Genetic Study (S.-H. T., 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 Northern California Breast Cancer Family Registry (E.M.J., the National Cancer Institute [USA, UM1 CA164920]. The content of this manuscript does not necessarily reflect 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 Nagano Breast Cancer Study (see above); the Shanghai Breast Cancer Genetics Study (see above); Seoul Breast Cancer Study (see above); the Singapore Breast Cancer Cohort (M.H., the NUS start-up Grant, National University Cancer Institute Singapore [NCIS] Centre Grant and the NMRC Clinician Scientist Award. Additional controls were recruited by the Singapore Consortium of Cohort Studies-Multi-ethnic cohort [SCCS-MEC], which was funded by the Biomedical Research Council, grant number: 05/1/21/19/425); and the Taiwanese Breast Cancer Study (C.-Y. S., the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan). BCAC European studies Genotyping of the OncoArray was principally funded by three sources: the PERSPECTIVE project, funded from the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie, de la Science et de l'Innovation du Québec through Genome Québec, and the Quebec Breast Cancer Foundation; the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project [NIH Grants U19 CA148065, X01HG007492]; and Cancer Research UK [C1287/A10118, C1287/A16563]. The BCAC is funded by Cancer Research UK [C1287/A16563], the European Community's Seventh Framework Programme under grant agreement 223175 [HEALTH-F2-2009-223175] (COGS). ### Author Declarations All relevant ethical guidelines have been followed and any necessary IRB and/or ethics committee approvals have been obtained. Yes All necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived. Yes Any clinical trials involved have been registered with an ICMJE-approved registry such as ClinicalTrials.gov and the trial ID is included in the manuscript. Not Applicable I have followed all appropriate research reporting guidelines and uploaded the relevant Equator, ICMJE or other checklist(s) as supplementary files, if applicable. Not Applicable The data are available through contacting BCAC and ABCC consortia.
Cold Spring Harbor Laboratory Press
2019
Preimpreso
https://www.medrxiv.org/content/10.1101/19003855v1
Inglés
VIRUS RESPIRATORIOS
Appears in Collections:Artículos científicos

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