在日本患有恶性固体瘤的患者中进行全面基因组分析的基因组景观
Tatsuro Yamaguchi1, Masachika Ikegami2,3, Tomoyuki Aruga2,4
1Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. tatsuro@yamaguchi.email.ne.jp.
从综合基因组分析 (CGP) 中重新注释变异对于精确的癌症研究至关重要. 这项研究澄清了基因组景观,识别了致病变体,并改善了对固体瘤的CGP测试的解释.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
背景情况:
- 综合基因组分析 (CGP) 有助于识别潜在的抗瘤剂.
- 在CGP测试和公共数据库中的变量注释可能会有很大的差异.
- 澄清固体瘤变异评估的基因组景观是必不可少的.
研究的目的:
- 评估和重新注释通过CGP在患有恶性固体瘤的患者中检测到的变异.
- 建立基于变异性致病性的基因组景观的更清晰的理解.
- 确定当前CGP变体解释和生殖系变体检测中的挑战.
主要方法:
- 对57,084名患有恶性固体瘤的患者进行了横截面研究.
- 利用了来自癌症基因组学和先进治疗中心 (C-CAT) 的数据.
- 使用公共数据库重新注释变体的病原性.
主要成果:
- 20.1%的重新注释的变体是致病性的;1.4%是良性的.
- 平均每名患者有4.30种致病变体;5.7%没有致病变体.
- 根据面板类型 (瘤/正常,仅瘤,液体) 的细菌线发现有所不同,其中BRCA2,TP53和BRCA1是最常见的.
结论:
- 由于包括良性或未知意义的变异,需要重新注释CGP变异.
- 从CGP测试解释中重新注释的数据辅助器中获得的基因组景观.
- 需要改进从瘤单独或液体活检面板中提取生殖线致病变体.
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