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The TP53 gene can also be modified by mutagens (chemicals, radiation, or viruses), increasing the likelihood for uncontrolled cell division. More than 50 percent of human tumors contain a mutation or deletion of the TP53 gene. [53] Loss of p53 creates genomic instability that most often results in an aneuploidy phenotype. [54]
LFS is caused by germline mutations (also called genetic variants) in the TP53 tumor suppressor gene, [5] which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The variants can be inherited, or can arise from mutations early in embryogenesis, or in one of the parent's germ cells.
TP53 is an important transcriptional activator of genes involved in the regulation of the G1 checkpoint of the cell cycle as well as certain genes responsible for programmed-cell death . It is believed that mutations to TP53 are responsible for the frequent therapy resistance and aggressive course of this disease. [17]
Initially there is a precursor lesion called serous endometrial intraepithelial carcinoma. Mutation is found in TP53 gene which is a tumor suppressor gene even in precursor lesion suggesting early involvement of this gene. Also many missense mutation and mutation in PI3K and PP2A genes are involved which also contribute to this tumor.
TP53 mutations have also been expressed in cells that exhibit shorter [clarification needed] and are more end-end fusion prone. It is also hypothesized that TP53 mutations may be implicated in premature chromosome condensation. TP53 may also contribute to the ability of cells to survive the catastrophic event that normally would be considered ...
Identical TP53 mutations in STIC and concurrent HGSC were reported, suggesting a clonal relationship. [27] In the triple p53-PTEN-Dicer knockout mice earlier mentioned, where the Fallopian tubes were intact, HGSC arose from the tubes 100% of the time, eclipsing the tumourgenicity of the ovary. [20] Identical findings were found from PTEN-Dicer ...
Cell line Primary tumor Origin of cells Estrogen receptors Progesterone receptors ERBB2 amplification Mutated TP53 [Notes 2] Tumorigenic in mice Reference External links 600MPE ...
7158 27223 Ensembl ENSG00000067369 ENSMUSG00000043909 UniProt Q12888 P70399 RefSeq (mRNA) NM_001141979 NM_001141980 NM_005657 NM_001355001 NM_001290830 NM_013735 RefSeq (protein) NP_001135451 NP_001135452 NP_005648 NP_001341930 NP_001277759 NP_038763 Location (UCSC) Chr 15: 43.4 – 43.51 Mb Chr 2: 121.02 – 121.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Tumor suppressor p53 ...