Search results
Results From The WOW.Com Content Network
For instance, a meta-analysis from 2009 failed to show a link for cervical cancer. [16] A 2011 study found that the TP53 proline mutation did have a profound effect on pancreatic cancer risk among males. [17] A study of Arab women found that proline homozygosity at TP53 codon 72 is associated with a decreased risk for breast cancer. [18]
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 ]
The Cancer Genome Atlas (TCGA) is a project to catalogue the genomic alterations responsible for cancer using genome sequencing and bioinformatics. [1] [2] The overarching goal was to apply high-throughput genome analysis techniques to improve the ability to diagnose, treat, and prevent cancer through a better understanding of the genetic basis of the disease.
Mutations to this gene have also been documented in other hematologic malignancies. [17] 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 ...
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 ...
Li-Fraumeni syndrome is caused by a gene alteration on the gene TP53. Cancer types associated with a mutation on this gene include breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia and brain tumors. In the Cowden syndrome there is a mutation on the PTEN gene, causing potential breast, thyroid or endometrial cancer. [20]
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]
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 ...