在人类癌症中BRAF基因的突变
Helen Davies1, Graham R Bignell, Charles Cox
1Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
在黑色素瘤和其他癌症中,BRAF突变很常见. 这些BRAF基因突变导致激酶活性增加,推动癌细胞生长,并建议黑色素瘤的新治疗点.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 癌症的发展源于累积的基因突变,这些突变会影响细胞的生长和死亡.
- 在人类癌症中,突变基因的信号通路被优先研究.
- RAS RAF MEK ERK MAP 激酶通路调节细胞对生长信号的反应.
研究的目的:
- 在人类癌症中发生突变的信号通路内识别基因.
- 调查BRAF突变在各种癌症,特别是黑色素瘤中的频率和影响.
主要方法:
- 对信号通路进行系统的全基因组选.
- 在人类癌症样本中分析BRAF基因突变.
- 细胞系中突变的BRAF蛋白的功能研究.
主要成果:
- 在66%的恶性黑色素瘤中发现了BRAF体质误解突变.
- 突变主要位于激酶域,V599E是最常见的 (80%).
- 突变的BRAF蛋白质表现出增加的激酶活性和转化潜力,独立于RAS信号传递.
结论:
- 在人类癌症中,体点突变经常激活BRAF.
- 激活的BRAF激酶对恶性黑色素瘤和其他癌症具有潜在的治疗点.
更多相关视频
07:49Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
Published on: July 17, 2019
06:44Bioluminescence Resonance Energy Transfer (BRET)-Based Assay for Measuring Interactions of CRAF with 14-3-3 Proteins in Live Cells
Published on: March 1, 2024
相关概念视频
Cancer
Cancers Originate from Somatic Mutations in a Single Cell
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Ras Gene
Ras is a superfamily...
Cancers Originate from Somatic Mutations in a Single Cell
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
