Clinical detection and categorization of uncommon and concomitant mutations involving BRAF
作者: Gang ZhengLi-Hui TsengGuoli ChenLisa HaleyPeter IlleiChristopher D. GockeJames R. EshlemanMing-Tseh Lin
作者单位: 1Johns Hopkins University School of Medicine
2National Taiwan University Hospital
3Penn State Hershey Medical Center
刊名: BMC Cancer, 2015, Vol.15 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12885-015-1811-y
关键词: BRAFLung cancerColorectal cancerMelanomaNext generation sequencingKinase activityConcomitant mutation
英文摘要: Abstract(#br) Background(#br)Selective BRAF inhibitors, vemurafenib and dabrafenib, and the MEK inhibitor, trametinib, have been approved for treatment of metastatic melanomas with a BRAF p.V600E mutation. The clinical significance of non-codon 600 mutations remains unclear, in part, due to variation of kinase activity for different mutants.(#br) Methods(#br)In this study, we categorized BRAF mutations according to the reported mutant kinase activity. A total of 1027 lung cancer, colorectal cancer or melanoma specimens were submitted for clinical mutation detection by next generation sequencing.(#br) Results(#br)Non-codon 600 mutations were observed in 37 % of BRAF -mutated tumors. Of all BRAF mutants, 75 % were kinase-activated, 15 % kinase-impaired and 10 % kinase-unknown. The most...
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影响因子:3.333 (2012)

  • categorization 归类
  • uncommon 非常的
  • detection 探测
  • concomitant 伴行的