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通过全面的基因组分析来确定不确定的BRCA1/2变异的优先级框架

Hikaru Nakahara1, Hiroaki Niitsu2, Asuka Toshida1

  • 1Department of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan.

European journal of human genetics : EJHG
|March 1, 2026
PubMed
概括

综合基因组分析 (CGP) 识别了不确定的重要性 (VUS) 的BRCA1/2变异. 整合in silico和功能数据的新框架优先考虑这些VUS,帮助临床解释遗传癌症风险.

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