Polygenic risk scores for prediction of breast cancer risk in Asian populations.

Autor:	Ho WK; School of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Selangor, Malaysia; Cancer Research Malaysia, Selangor, Malaysia. Electronic address: WeangKee.Ho@nottingham.edu.my., Tai MC; Cancer Research Malaysia, Selangor, Malaysia., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Shu X; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Li J; Department of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore; Genome Institute of Singapore, Laboratory of Women's Health and Genetics, Singapore, Singapore., Ho PJ; Genome Institute of Singapore, Laboratory of Women's Health and Genetics, Singapore, Singapore., Millwood IY; Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom., Lin K; Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom., Jee YH; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA., Lee SH; Graduate School of Public Health, Yonsei University, Seoul, Korea., Mavaddat N; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Ayios Dometios, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Ayios Dometios, Cyprus., Long J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN., Wijaya EA; Cancer Research Malaysia, Selangor, Malaysia., Hassan T; Cancer Research Malaysia, Selangor, Malaysia., Rahmat K; Biomedical Imaging Department, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tan VKM; Department of Breast Surgery, Singapore General Hospital, Singapore, Singapore; Division of Surgery and Surgical Oncology, National Cancer Center Singapore, Singapore, Singapore., Tan BKT; Department of Breast Surgery, Singapore General Hospital, Singapore, Singapore; Division of Surgery and Surgical Oncology, National Cancer Center Singapore, Singapore, Singapore; Department of General Surgery, Sengkang General Hospital, Singapore, Singapore., Tan SM; Division of Breast Surgery, Changi General Hospital, Singapore, Singapore., Tan EY; Department of General Surgery, Tan Tock Seng Hospital, Singapore, Singapore., Lim SH; KK Breast Department, KK Women's and Children's Hospital, Singapore, Singapore., Gao YT; State Key Laboratory of Oncogene and Related Genes & Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China., Zheng Y; Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China., Kang D; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University, Seoul, Korea., Choi JY; Cancer Research Institute, Seoul National University, Seoul, Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea; Institute of Health Policy and Management, Medical Research Center, Seoul National University, Seoul, Korea., Han W; Cancer Research Institute, Seoul National University, Seoul, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea., Lee HB; Cancer Research Institute, Seoul National University, Seoul, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea., Kubo M; RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan., Okada Y; Department of Statistical Genetics, Graduate School of Medicine, Faculty of Medicine, Osaka University, Suita, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Japan; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan., Namba S; Department of Statistical Genetics, Graduate School of Medicine, Faculty of Medicine, Osaka University, Suita, Japan., Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University, Seoul, Korea; Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, Korea., Kim SW; Department of Surgery, Daerim Saint Mary's Hospital, Seoul, Korea., Shen CY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Wu PE; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Park B; Department of Medicine, Hanyang University College of Medicine, Seoul, Korea., Muir KR; Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, The University of Manchester, Manchester, United Kingdom., Lophatananon A; Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, The University of Manchester, Manchester, United Kingdom., Wu AH; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA., Tseng CC; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA., Matsuo K; Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan; Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Ito H; Division of Cancer Information and Control, Aichi Cancer Center Research Institute, Nagoya, Japan; Division of Descriptive Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya University, Nagoya, Japan., Kwong A; Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong; Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong; Department of Surgery, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong., Chan TL; Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong; Department of Pathology, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong., John EM; Division of Oncology, Department of Medicine, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA; Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA., Kurian AW; Division of Oncology, Department of Medicine, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA; Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA., Iwasaki M; Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan., Yamaji T; Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan., Kweon SS; Department of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea; Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, Korea., Aronson KJ; Department of Public Health Sciences, and Cancer Research Institute, School of Medicine, Queen's University, Kingston, Ontario, Canada., Murphy RA; Cancer Control Research, BC Cancer, Vancouver, British Columbia, Canada; School of Population and Public Health, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Koh WP; Healthy Longevity Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Khor CC; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Yuan JM; Division of Cancer Control and Population Sciences, UPMC Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA; Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA., Dorajoo R; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore; Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore., Walters RG; Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom., Chen Z; Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom., Li L; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China., Lv J; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China., Jung KJ; Institute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, Korea., Kraft P; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA., Pharoah PDB; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Simard J; Genomics Center, CHU de Québec-Université Laval Research Center, Quebec City, Quebec, Canada., Shu XO; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN., Yip CH; Subang Jaya Medical Centre, Selangor, Malaysia., Taib NAM; Department of Surgery, Faculty of Medicine, University of Malaya Centre, UM Cancer Research Institute, Kuala Lumpur, Malaysia., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN., Hartman M; Department of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Teo SH; Cancer Research Malaysia, Selangor, Malaysia; Department of Surgery, Faculty of Medicine, University of Malaya Centre, UM Cancer Research Institute, Kuala Lumpur, Malaysia. Electronic address: soohwang.teo@cancerresearch.my.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 586-600. Date of Electronic Publication: 2021 Dec 15.
DOI:	10.1016/j.gim.2021.11.008
Abstrakt:	Purpose: Non-European populations are under-represented in genetics studies, hindering clinical implementation of breast cancer polygenic risk scores (PRSs). We aimed to develop PRSs using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups. Methods: The development data set comprised 138,309 women from 17 case-control studies. PRSs were generated using a clumping and thresholding method, lasso penalized regression, an Empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs. These PRSs were evaluated in 89,898 women from 3 prospective studies (1592 incident cases). Results: The best performing PRS (genome-wide set of single-nucleotide variations [formerly single-nucleotide polymorphism]) had a hazard ratio per unit SD of 1.62 (95% CI = 1.46-1.80) and an area under the receiver operating curve of 0.635 (95% CI = 0.622-0.649). Combined Asian and European PRSs (333 single-nucleotide variations) had a hazard ratio per SD of 1.53 (95% CI = 1.37-1.71) and an area under the receiver operating curve of 0.621 (95% CI = 0.608-0.635). The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk. Conclusion: PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry. Competing Interests: Conflict of Interest The authors declare no conflicts of interest. (Copyright © 2021 American College of Medical Genetics and Genomics. All rights reserved.)
Databáze:	MEDLINE
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