Search results
Results from the WOW.Com Content Network
Space-filling model of the PTEN protein (blue) complexed with tartaric acid (brown) [5] Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the PTEN gene. [6] Mutations of this gene are a step in the development of many cancers, specifically
PTEN. The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. This gene which regulates cell growth, when not working properly can lead to hamartomas.
[4] [5] [6] The number and variety of observed mutations suggests that these mutations may contribute to clonal hematopoiesis by several distinct mechanisms, discussed in more detail below. While DNMT3A is the most prevalent driver mutation, TET2 and splicing gene mutations are more prevalent in those over 75 years old.
The most common known aberrations include the PIK3CA gene mutation and the loss-of-function mutations or epigenetic silencing of PTEN. [12] The phosphoinositide 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) pathway is activated in approximately 30–40% of BC cases.
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]
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]
Phosphatase and tensin homolog (PTEN) antagonises PI3K by converting PI(3,4,5)P 3 into PI(4,5)P 2. Loss of PTEN function leads to over-activation of Akt and is common in cancer cells (PTEN is a tumour suppressor). SH2-containing Inositol Phosphatase (SHIP) also dephosphorylates PI(3,4,5)P 3, at the 5' position of the inositol ring. [22]
11191 n/a Ensembl ENSG00000237984 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 9: 33.67 – 33.68 Mb n/a PubMed search n/a Wikidata View/Edit Human Phosphatase and tensin homolog (mutated in multiple advanced cancers 1), pseudogene 1, also known as PTENP1, is a human pseudogene. which has a partial reactivated function as a competing endogenous RNA ...