将生殖线癌症倾向与基于瘤的下一代测序对齐,用于现代瘤学诊断,拦截和治疗发展
Timothy A Yap1, Zsofia K Stadler2, Leigh Anne Stout3
1University of Texas MD Anderson Cancer Center, Houston, TX.
概括
精准医学越来越多地使用基因组测试来发现癌症. 结合生殖系和体内下一代测序 (NGS) 分析,可以改善患者管理,并确定向治疗候选人.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 精准医学是一门精准的医学.
背景情况:
- 在精密医学中,基因组检查生殖线和体质变异至关重要.
- 下一代测序 (NGS) 已经将生殖线测试从单基因转移到多基因面板,通常是癌症表型不可知.
- 实体瘤检测正在扩大到早期疾病,用于针对性治疗决策.
研究的目的:
- 讨论癌症患者的综合体和生殖系基因组分析.
- 为突出结合瘤正常测序所获得的知识.
- 详细介绍将基因组分析纳入癌症治疗的策略,并讨论DNA损伤反应抑制剂.
主要方法:
- 审查当前对体质和生殖系基因组分析的方法.
- 对综合瘤-正常测序策略的讨论.
- 探索临床整合模型和向疗法.
主要成果:
- 对生殖线和体基因组测试的综合方法提供了最佳的患者管理.
- 了解个别NGS测试的局限性至关重要,以避免忽视发现.
- 需要进行NGS测试,以同时评估生殖线和瘤.
结论:
- 综合基因组分析,结合生殖线和体检测,对于全面的癌症管理至关重要.
- 同时开发生殖线和瘤NGS测试是一个优先事项.
- 聚分子酶抑制剂和其他DNA损伤反应抑制剂对具有特定突变的患者显示出有前途.
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