large intestine cancer(大肠癌)

返回

检测编号:SS0690212


服务项目

境象生物为您提供BRAF基因的突变检测服务。

样本要求

新鲜或石蜡包埋的病理组织样本(≥100mg组织)

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称基因全名基因位置外显子个数 CDS长度
BRAF v-raf murine sarcoma viral oncogene homolog B1 7q34 18 约2946 bp
基因摘要 This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008].

相关文献

  1. Arai E et al, Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome., International journal of cancer. Journal international du cancer;135(6):1330-42, 2014, PubMed Link
  2. Aydin IT et al, FBXW7 Mutations in Melanoma and a New Therapeutic Paradigm., Journal of the National Cancer Institute;106(6):dju107, 2014, PubMed Link
  3. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
  4. Brastianos PK et al, Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas., Nature genetics;46(2):161-5, 2014, PubMed Link
  5. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link