breast cancer(乳腺癌) |
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境象生物为您提供BRAF基因的突变检测服务。
新鲜或石蜡包埋的病理组织样本(≥100mg组织)
合同签订后30个工作日。
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。
测序法
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]. |