黑色素瘤基因突變芯片 Melanoma qBiomarker Somatic Mutation PCR Array
黑色素瘤基因突變芯片 Melanoma qBiomarker Somatic Mutation PCR Array
黑色素瘤基因突變芯片 Melanoma qBiomarker Somatic Mutation PCR Array
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| 地區： | 上海 |
| 簡介： | Melanoma Mutation PCR Array |
| 提供商： | SAB |
| 服務名稱： | Melanoma Mutation PCR Array |
There are two major classes of BRAF mutations. One class leads to increased BRAF kinase activity, such as the p. V600E mutation. The other class leads to impaired kinase activity, such as the p.G469A mutation. CDKN2A: 7 Assays The top CDKN2A loss-of-function mutations occur in the consensus ankyrin domain, which leads to inability to form stable complexes with its targets. CTNNB1: 2 Assays The most frequently detected CTNNB1/beta-catenin mutations result in abnormal signaling in the WNT signaling pathway. The mutated codons are mainly several serine/threonine residues targeted for phosphorylation by GSK-3beta. GNAQ: 2 Assays The mutations queried by these assays all lie in the protein's GTP nucleotide binding domain. HRAS: 1 Assay The most important HRAS mutation in melanoma occurs at codon 61. KIT: 2 Assays The most frequently identified KIT gain-of-function mutations include the D816V point mutation, the exon 11 (juxtamembrane domain) deletion and point mutations, an exon 9 insertion mutation, and exon 13 point mutations. KRAS: 3 Assays The mutation assays include the most frequently occurring mutations in KRAS codons 12, 13, and 61. Mutations at these positions result in reduced intrinsic GTPase activity and/or cause KRAS to become unresponsive to RasGAP. NRAS: 11 Assays The mutation assays include the most important NRAS mutations at codons 12, 13, and 61. PIK3CA: 1 Assay The most frequently occurring PIK3CA mutations mainly belong to two classes: gain-of-function kinase domain activating mutations and helical domain mutations that mimic activation by growth factors. STK11: 1 Assay The most commonly detected STK11/LKB1 inactivation mutations are mainly due to truncation or point mutations. |
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