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Title: | Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry. | Authors: | Long J.;Simard J.;Kubo M.;Kraft P.;Kang D.;Easton D.F.;Zheng W.;Yang Y.;Shu X.;Shu X.-O.;Bolla M.K.;Kweon S.-S.;Cai Q.;Michailidou K.;Wang Q.;Dennis J.;Park B.;Matsuo K.;Kwong A.;Park S.K.;Wu A.H.;Teo S.H.;Iwasaki M.;Choi J.-Y.;Li J.;Hartman M.;Shen C.-Y.;Muir K.;Lophatananon A.;Li B.;Wen W.;Gao Y.-T.;Xiang Y.-B.;Aronson K.J.;Spinell J.J.;Gago-Dominguez M.;John E.M.;Kurian A.W.;Chang-Claude J.;Chen S.-T.;Dork T.;Evans D.G.R.;Schmidt M.K.;Shin M.-H.;Giles G.G.;Milne R.L. | Institution: | (Yang, Shu, Shu, Cai, Wen, Zheng, Long) Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, United States (Bolla, Michailidou, Wang, Dennis, Easton) Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom (Kweon, Shin) Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea (Park) Department of Medicine, College of Medicine, Hanyang University, Seoul, South Korea (Matsuo) Department of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan (Matsuo) Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan (Kwong) Hong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong (Kwong) Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong (Kwong) Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong (Park, Choi, Kang) Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea (Park, Choi, Kang) Cancer Research Institute, Seoul National University, Seoul, South Korea (Park, Kang) Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea (Wu) Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States (Teo) Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia (Teo) Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia (Iwasaki) Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan (Li) Human Genetics, Genome Institute of Singapore, Singapore (Li, Hartman) Department of Surgery, National University Hospital, Singapore (Hartman) Saw Swee Hock School of Public Health, National University of Singapore, Singapore (Shen) School of Public Health, China Medical University, Taichung, Taiwan (Republic of China) (Shen) Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan (Republic of China) (Muir, Lophatananon) Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, United Kingdom (Muir, Lophatananon) Institute of Population Health, University of Manchester, Manchester, United Kingdom (Li) Department of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, United States (Gao) Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China (Xiang) State Key Laboratory of Oncogene and Related Genes & Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China (Aronson) Department of Public Health Sciences, Cancer Research Institute, Queen's University, Kingston, Ontario, Canada (Spinell) Cancer Control Research, BC Cancer Agency, Vancouver, British Columbia, Canada (Spinell) School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada (Gago-Dominguez) Genomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago De Compostela, Spain (Gago-Dominguez) Moores Cancer Center, University of California San Diego, La Jolla, CA, United States (John) Department of Epidemiology, Cancer Prevention Institute of California, Fremont, CA, United States (John, Kurian) Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, United States (John) Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, United States (Kurian) Department of Medicine, Stanford University School of Medicine, Stanford, CA, United States (Chang-Claude) Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany (Chang-Claude) University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany (Chen) Division of General Surgery, Changhua Christian Hospital, Changhua, Taiwan (Republic of China) (Dork) Gynaecology Research Unit, Hannover Medical School, Hannover, Germany (Evans) Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom (Evans) Manchester Centre for Genomic Medicine, University of Manchester, Manchester, United Kingdom (Schmidt) Division of Molecular Pathology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Schmidt) Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Giles, Milne) Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, 615 St Kilda Road, Melbourne, Victoria 3004, Australia (Giles, Milne) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia (Giles) Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia (Milne) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia (Simard) Genomics Center, Centre Hospitalier Universitaire de Quebec Research Center, Laval University, Quebec City, Quebec, Canada (Kubo) RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (Kraft) Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, MA, United States (Kraft) Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, United States | Issue Date: | 6-Nov-2019 | Copyright year: | 2019 | Publisher: | Elsevier B.V. | Place of publication: | Netherlands | Publication information: | EBioMedicine. 48 (pp 203-211), 2019. Date of Publication: October 2019. | Abstract: | Background: We previously conducted a systematic field synopsis of 1059 breast cancer candidate gene studies and investigated 279 genetic variants, 51 of which showed associations. The major limitation of this work was the small sample size, even pooling data from all 1059 studies. Thereafter, genome-wide association studies (GWAS) have accumulated data for hundreds of thousands of subjects. It's necessary to re-evaluate these variants in large GWAS datasets. Method(s): Of these 279 variants, data were obtained for 228 from GWAS conducted within the Asian Breast Cancer Consortium (24,206 cases and 24,775 controls) and the Breast Cancer Association Consortium (122,977 cases and 105,974 controls of European ancestry). Meta-analyses were conducted to combine the results from these two datasets. Finding(s): Of those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P < 2.19 x 10-4. The associations for four variants reached P < 5 x 10-8 and have been reported by previous GWAS, including rs6435074 and rs6723097 (CASP8), rs17879961 (CHEK2) and rs2853669 (TERT). The remaining eight variants were rs676387 (HSD17B1), rs762551 (CYP1A2), rs1045485 (CASP8), rs9340799 (ESR1), rs7931342 (CHR11), rs1050450 (GPX1), rs13010627 (CASP10) and rs9344 (CCND1). Further investigating these 10 genes identified associations for two additional variants at P < 5 x 10-8, including rs4793090 (near HSD17B1), and rs9210 (near CYP1A2), which have not been identified by previous GWAS. Interpretation(s): Though most candidate gene variants were not associated with breast cancer risk, we found 14 variants showing an association. Our findings warrant further functional investigation of these variants. Fund: National Institutes of Health.Copyright © 2018 | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.ebiom.2019.09.006 | PubMed URL: | 31629678 [http://www.ncbi.nlm.nih.gov/pubmed/?term=31629678] | ISSN: | 2352-3964 (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/35871 | Type: | Article | Subjects: | *Caucasian female gene genome-wide association study human major clinical study priority journal caspase 10/ec [Endogenous Compound] caspase 8/ec [Endogenous Compound] checkpoint kinase 2/ec [Endogenous Compound] cytochrome P450 1A2/ec [Endogenous Compound] glutathione peroxidase 1/ec [Endogenous Compound] telomerase reverse transcriptase/ec [Endogenous Compound] CASP8 gene CCND1 gene chr11 gene ESR1 gene hsd17b1 gene *genetic variability article *Asian continental ancestry group *breast cancer/et [Etiology] *cancer risk human major clinical study priority journal Article *Asian continental ancestry group *breast cancer / *etiology *cancer risk *Caucasian female gene *genetic variability genome-wide association study |
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