该基因编码蛋白属于raf/mil家族的丝氨酸/苏氨酸蛋白激酶,参与调控MAP/ERKs信号通路,在细胞分裂、分化和分泌起重要作用。BRAF基因的突变与各种癌症相关,包括非霍奇金淋巴瘤,结直肠癌,恶性黑色素瘤,甲状腺癌,非小细胞肺癌,肺腺癌。

基因名:BRAF
别名:B-RAF1,B-raf,BRAF1,NS7,RAFB1
基因ID:673
Chromosome:
(GRCh37)
7 Start: 140419127 End: 140624564 Strand: -1
药物: 阿培利司/阿博利布  瑞法替尼,瑞美替尼  贝伐单抗,贝伐珠单抗  Dactolisib  比美替尼、贝美替尼  BMS-754807  卡培他滨  西妥昔单抗  CI-1040 考比替尼,卡比替尼  达拉非尼  达沙替尼  康奈非尼,恩考芬尼  厄洛替尼  依维莫司  Fluorouracil GDC-0879  Pictilisib  吉非替尼  GSK 1120212 伊立替康 LY3009120  MEK Inhibitor Nutlin-3  奥沙利铂 帕尼单抗  PD0325901  PD 0325901  帕妥珠单抗  Pictilisib  PLX4720  RDEA 119 瑞戈非尼  RO4987655  司美替尼  索拉非尼  TAK-733  替西罗莫司/坦西莫司  曲美替尼  U0126  维莫非尼,威罗菲尼 
BRAF 基因突变与药物
BRAF 基因突变 V600E
Allele Registry ID:CA123643别名:RS113488022,VAL600GLU
ClinVar ID:13961

BRAFV600E已被证明在许多癌症类型中复发。它是癌症中研究最广泛的变种之一。这种变异与某些癌症类型的预后不良有关,包括结直肠癌和乳头状甲状腺癌。靶向治疗达巴非尼已被证明在一系列BRAF突变和癌症类型的临床试验中有效。达巴非尼与MEK抑制剂曲美替尼联合治疗结直肠癌和黑色素瘤也显示出疗效。然而,在TP53、CDKn2A和Kras突变患者中,已有报道达巴芬尼耐药。伊普利单抗、雷戈拉芬尼、vemurafenib和一些联合疗法在治疗V600E突变方面取得了成功。然而,西妥昔单抗和帕尼图单抗在没有补充治疗的情况下基本无效。
BRAF V600E has been shown to be recurrent in many cancer types. It is one of the most widely studied variants in cancer. This variant is correlated with poor prognosis in certain cancer types, including colorectal cancer and papillary thyroid cancer. The targeted therapeutic dabrafenib has been shown to be effective in clinical trials with an array of BRAF mutations and cancer types. Dabrafenib has also shown to be effective when combined with the MEK inhibitor trametinib in colorectal cancer and melanoma. However, in patients with TP53, CDKN2A and KRAS mutations, dabrafenib resistance has been reported. Ipilimumab, regorafenib, vemurafenib, and a number of combination therapies have been successful in treating V600E mutations. However, cetuximab and panitumumab have been largely shown to be ineffective without supplementary treatment.

基因突变位点
Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7140453136140453136AT
Transcript
ENST00000288602.6
基因序列
NM_004333.4:c.1799T>003eA
NP_004324.2:p.Val600Glu
NC_000007.13:g.140453136A>003eT
ENST00000288602.6:c.1799T>003eA