Śmiech Magdalena, Leszczyński Paweł, Kono Hidetoshi, Wardell Christopher, Taniguchi Hiroaki
Institute of Genetics and Animal Biotechnology, Laboratory for Genome Editing and Transcriptional, Regulation, Polish Academy of Sciences, 05-552 Jastrzębiec, Poland.
Molecular Modeling and Simulation Group, Institute for Quantum Life Science, National Institutes for Quantum and Radiological Science and Technology, Kizugawa, Kyoto 619-0215, Japan.
Genes (Basel). 2020 Nov 12;11(11):1342. doi: 10.3390/genes11111342.
Gene mutations can induce cellular alteration and malignant transformation. Development of many types of cancer is associated with mutations in the B-raf proto-oncogene () gene. The encoded protein is a component of the mitogen-activated protein kinases/extracellular signal-regulated kinases (MAPK/ERK) signaling pathway, transmitting information from the outside to the cell nucleus. The main function of the MAPK/ERK pathway is to regulate cell growth, migration, and proliferation. The most common mutations in the gene encode the V600E mutant (class I), which causes continuous activation and signal transduction, regardless of external stimulus. Consequently, cell proliferation and invasion are enhanced in cancer patients with such mutations. The V600E mutation has been linked to melanoma, colorectal cancer, multiple myeloma, and other types of cancers. Importantly, emerging evidence has recently indicated that new types of mutations (classes II and III) also play a paramount role in the development of cancer. In this minireview, we discuss the influence of various BRAF mutations in cancer, including aberrant transcriptional gene regulation in the affected tissues.
基因突变可诱导细胞改变和恶性转化。多种癌症的发生与B-raf原癌基因（）基因的突变有关。编码的蛋白质是丝裂原活化蛋白激酶/细胞外信号调节激酶（MAPK/ERK）信号通路的一个组成部分，将信息从细胞外传递到细胞核。MAPK/ERK通路的主要功能是调节细胞生长、迁移和增殖。该基因最常见的突变编码V600E突变体（I类），无论外部刺激如何，都会导致持续激活和信号转导。因此，患有此类突变的癌症患者的细胞增殖和侵袭会增强。V600E突变与黑色素瘤、结直肠癌、多发性骨髓瘤和其他类型的癌症有关。重要的是，最近新出现的证据表明，新型突变（II类和III类）在癌症发生中也起着至关重要的作用。在这篇小型综述中，我们讨论了各种BRAF突变在癌症中的影响，包括受影响组织中异常的转录基因调控。
