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  • > 产品目录 > 科研产品 > 体细胞突变PCR芯片 > 软组织瘤(包含GIST)体细胞突变PCR芯片
    人软组织瘤(包含GIST)体细胞突变PCR芯片适用于快速、准确的进行软组织瘤相关基因突变的检测,包括:APC, BRAF, CTNNB1/beta-catenin, HRAS, KIT, KRAS, NF2, NRAS, PDGFRA, SMARCB1和 p53。对上述基因突变的深入研究有助于科研工作者更好的了解肿瘤的发生机制,并为临床靶向用药提供可靠的分子机理。
    软组织瘤(包含GIST)体细胞突变PCR芯片
    人软组织瘤(包含GIST)体细胞突变PCR芯片适用于快速、准确的进行软组织瘤相关基因突变的检测,包括:APC, BRAF, CTNNB1/beta-catenin, HRAS, KIT, KRAS, NF2, NRAS, PDGFRA, SMARCB1和 p53。对上述基因突变的深入研究有助于科研工作者更好的了解肿瘤的发生机制,并为临床靶向用药提供可靠的分子机理。利用单个或多个体细胞突变信息检测关键信号通路异常已被广泛应用于临床研究。例如: EGFR和KRAS基因突变能够预测靶向该位点的药物治疗响应。人软组织瘤体细胞突变PCR芯片覆盖广泛,适用于软组织瘤以及含有此类突变的其他肿瘤的突变检测,并有望为临床相关疾病提供潜在药物治疗靶点。该芯片包含83个软组织瘤中最常见的,具有重要功能和生理学意义的突变位点。突变位点主要由多种体细胞突变数据库以及经同行评阅的科学文献筛选得到,展示了超过4800例软组织瘤患者(包括3100例GIST)的最常见突变。
     
    Assay functional annotations
    APC: 3 Assays
    The most commonly detected APC inactivation mutations are mainly composed of truncation mutations (due to nonsense mutations and frameshift mutations) and point mutations between codons 1250 and 1578.
    BRAF: 1 Assay
    The most important BRAF mutation in soft tissue tumors leads to increased kinase activity, the p. V600E mutation.
    CTNNB1: 7 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.
    HRAS: 5 Assays
    The mutation assays include the most important HRAS mutations identified in cancers at codons 12, 13, and 61.
    KIT: 27 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: 6 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.
    NF2: 6 Assays
    NF2 is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins and links cell-surface proteins with cytoskeletal components and proteins involved in cytoskeletal dynamics. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities.
    NRAS: 3 Assays
    The mutation assays include the most important NRAS mutations at codons 12, 13, and 61.
    PDGFRA: 15 Assays
    The most frequently identified PDGFRA gain-of-function mutations include deletion, point mutation, and deletion-insertion mutations in regions p.D842-S847 and p.R554-E571 as well as the point mutations p.N659Y and p.T674I.
    SMARCB1: 5 Assays
    SMARCB1, as part of a complex, relieves repressive chromatin structures, allowing the transcriptional machinery to more effectively access its targets. Mutations in this tumor suppressor gene have been associated with malignant rhabdoid tumors.
    TP53: 5 Assays
    The most frequently detected somatic mutations in TP53 are largely composed of DNA-binding domain mutations which disrupt either DNA binding or protein structure.
    规格:83个位点/array    1sample/array 



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