prostate cancer(前列腺癌)

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检测编号:GS1090687


服务项目

楚天生物为您提供TP53基因的突变检测服务。

样本要求

唾液(2ml以上)、全血(2ml以上)

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
TP53 tumor protein p53 17p13.1 11 约2591 bp
基因摘要 This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity. [provided by RefSeq]

相关文献

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  4. 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
  5. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link

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