检测编号：SS0690213

服务项目

境象生物为您提供TP53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
TP53	tumor protein p53	17p13.1	11	约2591 bp
基因摘要	This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013].

相关文献

1. Alakus H et al, Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin., Genome medicine;6(5):43, 2014, PubMed Link
2. 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
3. Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 2014, PubMed Link
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