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The TP53 gene is the most frequently mutated gene (>50%) in human cancer, indicating that the TP53 gene plays a crucial role in preventing cancer formation. [5] TP53 gene encodes proteins that bind to DNA and regulate gene expression to prevent mutations of the genome. [12]
Li–Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary disorder [1] that predisposes carriers to cancer development.It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni Jr., who first recognized the syndrome after reviewing the medical records and death certificates of childhood rhabdomyosarcoma patients. [2]
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]
While prognosis is highly variable and dependent on various factors including these mutations, the average 5-year relative survival is 86.1%. [85] Telomere length has been suggested to be a valuable prognostic indicator of survival. [86] In addition, a person's sex has been found to have an impact on CLL prognosis and treatment efficacy.
However, TP53 mutations were found in 96% of HGSC cases. [17] A local abnormal TP53 expression may thus be indicative of HGSC. [ 18 ] In women, pelvic HGSC show either a complete absence of P53 expression, or overexpression, suggesting that any aberration of P53 leads to tumour development. [ 19 ]
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.
Mutations in the p53 pathway have been observed in almost all cancer types including breast cancer, bladder cancer, lung cancer, ovarian cancer, cholangiocarcinoma, head and neck squamous cell carcinoma, melanoma, wilms tumor, and other cancers often due to a single point mutation in p53.
In addition, his paper on the TP53 mutation spectrum is among the most highly cited in the biomedical research field, with over 9,000 citations and web of science (Science 253:49, 1991). [7] These findings have had, and continue to have, a major impact in cancer risk assessment and biomarker discovery for cancer prevention, diagnosis and prognosis.