转录组
外显子组测序
外显子组
DNA测序
计算生物学
生物信息学
医学
基因组测序
基因表达谱
实体瘤
基因组学
生物
RNA序列
靶向治疗
全基因组测序
肿瘤科
DNA
基因组DNA
核糖核酸
大规模并行测序
内科学
数字聚合酶链反应
基因组
癌症研究
基因
癌症
精确肿瘤学
仿形(计算机编程)
基因组不稳定性
作者
Burak Uzunparmak,Fei Su,A. Johnson,Kenna Shaw,E. Kong,Anil Korkut,Camila Bragança Xavier,Y. Yuan,Nathan Fowler,Francesca Paradiso,Lile Kontselidze,Anna Butusova,Alexander Bagaev,Ecaterina E. Dumbrava,Jordi Rodon,David S. Hong,Timothy A. Yap,S. Fu,Aung Naing,Sarina A Piha-Paul
标识
DOI:10.1158/2159-8290.cd-25-1304
摘要
The added value of comprehensive genomic and transcriptomic profiling (CGTP) with whole exome sequencing (WES) and whole transcriptome sequencing (WTS) as compared to conventional targeted panel-based sequencing is not well-characterized for patients with cancer. We thus sought to determine the potential clinical utility of CGTP in a prospective clinical study in patients with advanced or metastatic solid tumors. We performed WES and WTS for patients who had prior targeted panel sequencing and had no DNA alterations with approved biomarker-matched therapies. We analyzed CGTP data of 99 patients with advanced cancers across 19 solid tumor types and assessed presence of actionable DNA alterations and RNA expressions linked to approved or investigational agents. CGTP identified actionable genomic and transcriptomic alterations in 69.7% and 100% of cases, respectively. In this pilot study where CGTP was incorporated into routine care, 19.2% of patients received biomarker-matched therapy.
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