Mei-Chee Tai, Joe Dennis, Sue K Park, Sung-Won Kim, Jong Won Lee, Nur Tiara Hassan, Ava Kwong, Mikael Hartman, Sook-Yee Yoon, Joanne Ngeow, Yin-Ling Woo, Boyoung Park, Zhi-Lei Wong, Goska Leslie, Manjeet K Bolla, Daniel R Barnes, Michael T Parsons, Penny Soucy, Jacques Simard, Nur Aishah Mohd Taib, Cheng-Har Yip, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Soo-Hwang Teo, Weang-Kee Ho
{"title":"亚洲BRCA1和BRCA2致病变异携带者乳腺癌风险预测的多基因风险评分","authors":"Mei-Chee Tai, Joe Dennis, Sue K Park, Sung-Won Kim, Jong Won Lee, Nur Tiara Hassan, Ava Kwong, Mikael Hartman, Sook-Yee Yoon, Joanne Ngeow, Yin-Ling Woo, Boyoung Park, Zhi-Lei Wong, Goska Leslie, Manjeet K Bolla, Daniel R Barnes, Michael T Parsons, Penny Soucy, Jacques Simard, Nur Aishah Mohd Taib, Cheng-Har Yip, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Soo-Hwang Teo, Weang-Kee Ho","doi":"10.1038/s41523-025-00820-0","DOIUrl":null,"url":null,"abstract":"<p><p>Polygenic risk scores (PRS) have been shown to be predictive of breast cancer (BC) risk in European BRCA1 and BRCA2 pathogenic variant (PV) carriers, but their utility in Asian populations has not been evaluated. In this study, we evaluated the association of two breast cancer PRS developed for the East Asian general population and three versions of a PRS developed for the European general population in 604 BRCA1 (390 affected by breast cancer) and 785 BRCA2 (552 affected by breast cancer) PV female carriers of Asian ancestry. Only the Asian-based PRS, constructed using approximately 1 million single-nucleotide variations (SNVs), showed a significant association with breast cancer risk (Hazard Ratio per standard deviation (95% Confidence Interval) is 1.47 (1.10-1.95) for BRCA1 and 1.43 (1.04-1.95) for BRCA2). Incorporating this PRS into risk prediction models may improve cancer risk assessment among PV carriers of Asian ancestry.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"105"},"PeriodicalIF":7.6000,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484999/pdf/","citationCount":"0","resultStr":"{\"title\":\"Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers.\",\"authors\":\"Mei-Chee Tai, Joe Dennis, Sue K Park, Sung-Won Kim, Jong Won Lee, Nur Tiara Hassan, Ava Kwong, Mikael Hartman, Sook-Yee Yoon, Joanne Ngeow, Yin-Ling Woo, Boyoung Park, Zhi-Lei Wong, Goska Leslie, Manjeet K Bolla, Daniel R Barnes, Michael T Parsons, Penny Soucy, Jacques Simard, Nur Aishah Mohd Taib, Cheng-Har Yip, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Soo-Hwang Teo, Weang-Kee Ho\",\"doi\":\"10.1038/s41523-025-00820-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Polygenic risk scores (PRS) have been shown to be predictive of breast cancer (BC) risk in European BRCA1 and BRCA2 pathogenic variant (PV) carriers, but their utility in Asian populations has not been evaluated. In this study, we evaluated the association of two breast cancer PRS developed for the East Asian general population and three versions of a PRS developed for the European general population in 604 BRCA1 (390 affected by breast cancer) and 785 BRCA2 (552 affected by breast cancer) PV female carriers of Asian ancestry. Only the Asian-based PRS, constructed using approximately 1 million single-nucleotide variations (SNVs), showed a significant association with breast cancer risk (Hazard Ratio per standard deviation (95% Confidence Interval) is 1.47 (1.10-1.95) for BRCA1 and 1.43 (1.04-1.95) for BRCA2). Incorporating this PRS into risk prediction models may improve cancer risk assessment among PV carriers of Asian ancestry.</p>\",\"PeriodicalId\":19247,\"journal\":{\"name\":\"NPJ Breast Cancer\",\"volume\":\"11 1\",\"pages\":\"105\"},\"PeriodicalIF\":7.6000,\"publicationDate\":\"2025-09-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484999/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"NPJ Breast Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41523-025-00820-0\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"NPJ Breast Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41523-025-00820-0","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers.
Polygenic risk scores (PRS) have been shown to be predictive of breast cancer (BC) risk in European BRCA1 and BRCA2 pathogenic variant (PV) carriers, but their utility in Asian populations has not been evaluated. In this study, we evaluated the association of two breast cancer PRS developed for the East Asian general population and three versions of a PRS developed for the European general population in 604 BRCA1 (390 affected by breast cancer) and 785 BRCA2 (552 affected by breast cancer) PV female carriers of Asian ancestry. Only the Asian-based PRS, constructed using approximately 1 million single-nucleotide variations (SNVs), showed a significant association with breast cancer risk (Hazard Ratio per standard deviation (95% Confidence Interval) is 1.47 (1.10-1.95) for BRCA1 and 1.43 (1.04-1.95) for BRCA2). Incorporating this PRS into risk prediction models may improve cancer risk assessment among PV carriers of Asian ancestry.
期刊介绍：
npj Breast Cancer publishes original research articles, reviews, brief correspondence, meeting reports, editorial summaries and hypothesis generating observations which could be unexplained or preliminary findings from experiments, novel ideas, or the framing of new questions that need to be solved. Featured topics of the journal include imaging, immunotherapy, molecular classification of disease, mechanism-based therapies largely targeting signal transduction pathways, carcinogenesis including hereditary susceptibility and molecular epidemiology, survivorship issues including long-term toxicities of treatment and secondary neoplasm occurrence, the biophysics of cancer, mechanisms of metastasis and their perturbation, and studies of the tumor microenvironment.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
