2020年8月3日 · We analyzed 3,324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patients with distinct phenotypes and outcomes. One-third of TP53 -mutated patients...

2021年6月18日 · Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration. The effect of the variant on RNA or protein function, based on experimental evidence from submitters. The global minor allele frequency calculated by the …

This section shows a general overview of the selected mutation. It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. You can see more information on our help pages . Ever confirmed somatic?

Be aware that many cell lines may have different TP53 status according to different studies. This may be due to cell-line misidentification, cross-contamination or sequencing techniques (see …

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TP53 N235_Y236dup indicates the insertion of two duplicate amino acids, asparagine (N)-235 through tyrosine (Y)-236, in the DNA-binding domain of the Tp53 protein (UniProt.org). N235_Y236dup has been identified in sequencing studies ( PMID: 37792634 ), but has not been biochemically characterized and therefore, its effect on Tp53 protein ...

2023年9月4日 · Transformation of a myeloproliferative neoplasm to a secondary acute myeloid leukemia is rare but devastating. Single-cell, multi-omic characterization of hematopoietic stem and progenitor cells...

TP53, tumor protein p53, is a tumor suppressor (PMID: 30562755) and oncogene (PMID: 30577483) involved in cell cycle arrest and apoptosis, and is the most frequently mutated gene in cancer (PMID: 10065147, PMID: 22713868).

Nat Med. 2020 Oct;26 (10):1549-1556. doi: 10.1038/s41591-020-1008-z. Epub 2020 Aug 3. 1 Computational Oncology Service, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. 2 Center for Hematologic Malignancies, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

2024年7月4日 · Chromosome-wide copy-number alterations and TP53 mutations do occur, but in most choroid plexus tumors, driver mutations have not been identified. Here we give a brief overview of the histopathological and clinical diversity of choroid plexus tumors and their genetic and epigenetic heterogeneity.