ArticleEBioMedicine2019
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.
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Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15citing papers in PubMed, 1 pooled it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
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Corrections and comments
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Authors and funding
46 authors at 20 institutions in 14 countries.
Yaohua YangDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Xiang ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Manjeet K BollaCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Kyriaki MichailidouCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Boyoung ParkDepartment of Medicine, College of Medicine, Hanyang University, Seoul, South Korea.
Keitaro MatsuoDepartment of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong; Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong; Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong.
Sue Kyung ParkDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea; Cancer Research Institute, Seoul National University, Seoul, South Korea; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Soo Hwang TeoCancer Research Malaysia, Subang Jaya, Selangor, Malaysia; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Motoki IwasakiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea; Cancer Research Institute, Seoul National University, Seoul, South Korea.
Jingmei LiHuman Genetics, Genome Institute of Singapore, Singapore; Department of Surgery, National University Hospital, Singapore.
Mikael HartmanDepartment of Surgery, National University Hospital, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
Chen-Yang ShenSchool of Public Health, China Medical University, Taichung, Taiwan; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK; Institute of Population Health, University of Manchester, Manchester, UK.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK; Institute of Population Health, University of Manchester, Manchester, UK.
Bingshan LiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Wanqing WenDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Yong-Bing XiangState Key Laboratory of Oncogene and Related Genes & Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Kristan J AronsonDepartment of Public Health Sciences, Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
John J SpinellCancer Control Research, BC Cancer Agency, Vancouver, British Columbia, Canada; School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada.
Manuela Gago-DominguezGenomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago De Compostela, Spain; Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, CA, USA; Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA; Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Allison W KurianDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany; University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Shou-Tung ChenDivision of General Surgery, Changhua Christian Hospital, Changhua, Taiwan.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
D Gareth R EvansManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Min-Ho ShinDepartment of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Graham G GilesCancer Epidemiology Division, Cancer Council Victoria, 615 St Kilda Road, Melbourne, Victoria 3004, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia; Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, 615 St Kilda Road, Melbourne, Victoria 3004, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Quebec, Canada.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
Daehee KangDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea; Cancer Research Institute, Seoul National University, Seoul, South Korea; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Douglas F EastonCenter for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: jirong.long@vanderbilt.edu.
Vanderbilt University Medical Center · USUniversity of Cambridge · GBChonnam National University Hospital · KRSeoul National University · KRUniversity of Manchester · GBBC Cancer Agency · CACancer Council Victoria · AUCancer Prevention Institute of California · USCancer Research Malaysia · MYChanghua Christian Hospital · TWChina Medical University · TWGenome Institute of Singapore · SGHanyang University · KRHarvard University · USHeidelberg University · DEHong Kong Sanatorium and Hospital · HKMedizinische Hochschule Hannover · DENagoya University · JPNational Center for Global Health and Medicine · JPNational University of Singapore · SG
Funding
Shanghai Womens Health StudyUM1CA182910 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2014 to 2018
$5.9MUncovering Roles of Metabolites in Colorectal Cancer EtiologyR00CA230205 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI SHU, XIANG · 2020 to 2022
$888kUncovering roles of metabolites in colorectal cancer etiologyK99CA230205 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI SHU, XIANG · 2019 to 2020
$194kCancer Research UK 10118Cancer Research UK 16563Cancer Research UK 19169NCI NIH HHS K99 CA230205NCI NIH HHS R00 CA230205NCI NIH HHS UM1 CA182910Wellcome Trust 203477/Z/16/Z
Abstract
backgroundWe 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.
methodsOf 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.
findingsOf those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P < 2·19 × 10
interpretationThough 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.
Indexed as
Asian PeopleGenetic Predisposition to DiseaseGenetic VariationWhite PeopleAllelesBreast NeoplasmsCaspase 8FemaleGenotypeHumansOdds RatioPolymorphism, Single NucleotidePopulation SurveillanceRiskCASP8 protein, humanCaspase 8Breast cancer riskCandidate gene studiesGenetic variantsRe-evaluation
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