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<p>Polygenic risk scores (PRS) have been shown to be predictive of breast cancer (BC) risk in European <i>BRCA1</i> and <i>BRCA2</i> 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 <i>BRCA1</i> (390 affected by breast cancer) and 785 <i>BRCA2</i> (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 <i>BRCA1</i> and 1.43 (1.04–1.95) for <i>BRCA2</i>). Incorporating this PRS into risk prediction models may improve cancer risk assessment among PV carriers of Asian ancestry.</p>

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Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月30日

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  • 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

摘要

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.