Polygenic risk scores for prediction of breast cancer risk in Asian populations
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 subgroup...
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2022
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RC0254 Neoplasms. Tumors. Oncology (including Cancer) |
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RC0254 Neoplasms. Tumors. Oncology (including Cancer) Ho, Weang-Kee Tai, Mei-Chee Dennis, Joe Shu, Xiang Li, Jingmei Ho, Peh Joo Millwood, Iona Y. Lin, Kuang Jee, Yon-Ho Lee, Su-Hyun Mavaddat, Nasim Bolla, Manjeet K. Wang, Qin Michailidou, Kyriaki Long, Jirong Wijaya, Eldarina Azfar Hassan, Tiara Rahmat, Kartini Tan, Veronique Kiak Mien Tan, Benita Kiat Tee Tan, Su Ming Tan, Ern Yu Lim, Swee Ho Gao, Yu-Tang Zheng, Ying Kang, Daehee Choi, Ji-Yeob Han, Wonshik Lee, Han-Byoel Kubo, Michiki Okada, Yukinori Namba, Shinichi Park, Sue K. Kim, Sung-Won Shen, Chen-Yang Wu, Pei-Ei Park, Boyoung Muir, Kenneth R. Lophatananon, Artitaya Wu, Anna H. Tseng, Chiu-Chen Matsuo, Keitaro Ito, Hidemi Kwong, Ava Chan, Tsun L. John, Esther M. Kurian, Allison W. Iwasaki, Motoki Yamaji, Taiki Kweon, Sun-Seog Aronson, Kristan J. Murphy, Rachel A. Koh, Woon-Puay Khor, Chiea-Chuen Yuan, Jian-Min Dorajoo, Rajkumar Walters, Robin G. Chen, Zhengming Li, Liming Lv, Jun Jung, Keum-Ji Kraft, Peter Pharoah, Paul D. B. Dunning, Alison M. Simard, Jacques Shu, Xiao-Ou Yip, Cheng-Har Taib, Nur Aishah Mohd Antoniou, Antonis C. Zheng, Wei Hartman, Mikael Easton, Douglas F. Teo, Soo-Hwang Project, BioBank Japan Polygenic risk scores for prediction of breast cancer risk in Asian populations |
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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. (C) 2021 by American College of Medical Genetics and Genomics. Published by Elsevier Inc. |
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Ho, Weang-Kee Tai, Mei-Chee Dennis, Joe Shu, Xiang Li, Jingmei Ho, Peh Joo Millwood, Iona Y. Lin, Kuang Jee, Yon-Ho Lee, Su-Hyun Mavaddat, Nasim Bolla, Manjeet K. Wang, Qin Michailidou, Kyriaki Long, Jirong Wijaya, Eldarina Azfar Hassan, Tiara Rahmat, Kartini Tan, Veronique Kiak Mien Tan, Benita Kiat Tee Tan, Su Ming Tan, Ern Yu Lim, Swee Ho Gao, Yu-Tang Zheng, Ying Kang, Daehee Choi, Ji-Yeob Han, Wonshik Lee, Han-Byoel Kubo, Michiki Okada, Yukinori Namba, Shinichi Park, Sue K. Kim, Sung-Won Shen, Chen-Yang Wu, Pei-Ei Park, Boyoung Muir, Kenneth R. Lophatananon, Artitaya Wu, Anna H. Tseng, Chiu-Chen Matsuo, Keitaro Ito, Hidemi Kwong, Ava Chan, Tsun L. John, Esther M. Kurian, Allison W. Iwasaki, Motoki Yamaji, Taiki Kweon, Sun-Seog Aronson, Kristan J. Murphy, Rachel A. Koh, Woon-Puay Khor, Chiea-Chuen Yuan, Jian-Min Dorajoo, Rajkumar Walters, Robin G. Chen, Zhengming Li, Liming Lv, Jun Jung, Keum-Ji Kraft, Peter Pharoah, Paul D. B. Dunning, Alison M. Simard, Jacques Shu, Xiao-Ou Yip, Cheng-Har Taib, Nur Aishah Mohd Antoniou, Antonis C. Zheng, Wei Hartman, Mikael Easton, Douglas F. Teo, Soo-Hwang Project, BioBank Japan |
author_facet |
Ho, Weang-Kee Tai, Mei-Chee Dennis, Joe Shu, Xiang Li, Jingmei Ho, Peh Joo Millwood, Iona Y. Lin, Kuang Jee, Yon-Ho Lee, Su-Hyun Mavaddat, Nasim Bolla, Manjeet K. Wang, Qin Michailidou, Kyriaki Long, Jirong Wijaya, Eldarina Azfar Hassan, Tiara Rahmat, Kartini Tan, Veronique Kiak Mien Tan, Benita Kiat Tee Tan, Su Ming Tan, Ern Yu Lim, Swee Ho Gao, Yu-Tang Zheng, Ying Kang, Daehee Choi, Ji-Yeob Han, Wonshik Lee, Han-Byoel Kubo, Michiki Okada, Yukinori Namba, Shinichi Park, Sue K. Kim, Sung-Won Shen, Chen-Yang Wu, Pei-Ei Park, Boyoung Muir, Kenneth R. Lophatananon, Artitaya Wu, Anna H. Tseng, Chiu-Chen Matsuo, Keitaro Ito, Hidemi Kwong, Ava Chan, Tsun L. John, Esther M. Kurian, Allison W. Iwasaki, Motoki Yamaji, Taiki Kweon, Sun-Seog Aronson, Kristan J. Murphy, Rachel A. Koh, Woon-Puay Khor, Chiea-Chuen Yuan, Jian-Min Dorajoo, Rajkumar Walters, Robin G. Chen, Zhengming Li, Liming Lv, Jun Jung, Keum-Ji Kraft, Peter Pharoah, Paul D. B. Dunning, Alison M. Simard, Jacques Shu, Xiao-Ou Yip, Cheng-Har Taib, Nur Aishah Mohd Antoniou, Antonis C. Zheng, Wei Hartman, Mikael Easton, Douglas F. Teo, Soo-Hwang Project, BioBank Japan |
author_sort |
Ho, Weang-Kee |
title |
Polygenic risk scores for prediction of breast cancer risk in Asian populations |
title_short |
Polygenic risk scores for prediction of breast cancer risk in Asian populations |
title_full |
Polygenic risk scores for prediction of breast cancer risk in Asian populations |
title_fullStr |
Polygenic risk scores for prediction of breast cancer risk in Asian populations |
title_full_unstemmed |
Polygenic risk scores for prediction of breast cancer risk in Asian populations |
title_sort |
polygenic risk scores for prediction of breast cancer risk in asian populations |
publisher |
Elsevier Sci Inc |
publishDate |
2022 |
url |
http://eprints.um.edu.my/42333/ |
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1781704628929298432 |
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my.um.eprints.423332023-10-11T12:03:27Z http://eprints.um.edu.my/42333/ Polygenic risk scores for prediction of breast cancer risk in Asian populations Ho, Weang-Kee Tai, Mei-Chee Dennis, Joe Shu, Xiang Li, Jingmei Ho, Peh Joo Millwood, Iona Y. Lin, Kuang Jee, Yon-Ho Lee, Su-Hyun Mavaddat, Nasim Bolla, Manjeet K. Wang, Qin Michailidou, Kyriaki Long, Jirong Wijaya, Eldarina Azfar Hassan, Tiara Rahmat, Kartini Tan, Veronique Kiak Mien Tan, Benita Kiat Tee Tan, Su Ming Tan, Ern Yu Lim, Swee Ho Gao, Yu-Tang Zheng, Ying Kang, Daehee Choi, Ji-Yeob Han, Wonshik Lee, Han-Byoel Kubo, Michiki Okada, Yukinori Namba, Shinichi Park, Sue K. Kim, Sung-Won Shen, Chen-Yang Wu, Pei-Ei Park, Boyoung Muir, Kenneth R. Lophatananon, Artitaya Wu, Anna H. Tseng, Chiu-Chen Matsuo, Keitaro Ito, Hidemi Kwong, Ava Chan, Tsun L. John, Esther M. Kurian, Allison W. Iwasaki, Motoki Yamaji, Taiki Kweon, Sun-Seog Aronson, Kristan J. Murphy, Rachel A. Koh, Woon-Puay Khor, Chiea-Chuen Yuan, Jian-Min Dorajoo, Rajkumar Walters, Robin G. Chen, Zhengming Li, Liming Lv, Jun Jung, Keum-Ji Kraft, Peter Pharoah, Paul D. B. Dunning, Alison M. Simard, Jacques Shu, Xiao-Ou Yip, Cheng-Har Taib, Nur Aishah Mohd Antoniou, Antonis C. Zheng, Wei Hartman, Mikael Easton, Douglas F. Teo, Soo-Hwang Project, BioBank Japan RC0254 Neoplasms. Tumors. Oncology (including Cancer) 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. (C) 2021 by American College of Medical Genetics and Genomics. Published by Elsevier Inc. Elsevier Sci Inc 2022-03 Article PeerReviewed Ho, Weang-Kee and Tai, Mei-Chee and Dennis, Joe and Shu, Xiang and Li, Jingmei and Ho, Peh Joo and Millwood, Iona Y. and Lin, Kuang and Jee, Yon-Ho and Lee, Su-Hyun and Mavaddat, Nasim and Bolla, Manjeet K. and Wang, Qin and Michailidou, Kyriaki and Long, Jirong and Wijaya, Eldarina Azfar and Hassan, Tiara and Rahmat, Kartini and Tan, Veronique Kiak Mien and Tan, Benita Kiat Tee and Tan, Su Ming and Tan, Ern Yu and Lim, Swee Ho and Gao, Yu-Tang and Zheng, Ying and Kang, Daehee and Choi, Ji-Yeob and Han, Wonshik and Lee, Han-Byoel and Kubo, Michiki and Okada, Yukinori and Namba, Shinichi and Park, Sue K. and Kim, Sung-Won and Shen, Chen-Yang and Wu, Pei-Ei and Park, Boyoung and Muir, Kenneth R. and Lophatananon, Artitaya and Wu, Anna H. and Tseng, Chiu-Chen and Matsuo, Keitaro and Ito, Hidemi and Kwong, Ava and Chan, Tsun L. and John, Esther M. and Kurian, Allison W. and Iwasaki, Motoki and Yamaji, Taiki and Kweon, Sun-Seog and Aronson, Kristan J. and Murphy, Rachel A. and Koh, Woon-Puay and Khor, Chiea-Chuen and Yuan, Jian-Min and Dorajoo, Rajkumar and Walters, Robin G. and Chen, Zhengming and Li, Liming and Lv, Jun and Jung, Keum-Ji and Kraft, Peter and Pharoah, Paul D. B. and Dunning, Alison M. and Simard, Jacques and Shu, Xiao-Ou and Yip, Cheng-Har and Taib, Nur Aishah Mohd and Antoniou, Antonis C. and Zheng, Wei and Hartman, Mikael and Easton, Douglas F. and Teo, Soo-Hwang and Project, BioBank Japan (2022) Polygenic risk scores for prediction of breast cancer risk in Asian populations. Genetics in Medicine, 24 (3). pp. 586-600. ISSN 1098-3600, DOI https://doi.org/10.1016/j.gim.2021.11.008 <https://doi.org/10.1016/j.gim.2021.11.008>. 10.1016/j.gim.2021.11.008 |
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13.154949 |