BRAF V600E

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.

别名

RS113488022,VAL600GLU
Allele Registry ID:CA123643
ClinVar ID:13961

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