This syndrome is occasionally diagnosed in childhood by multiple gastrointestinal lesions, autism spectrum disorders, and intellectual disability. CS/PHTS may be identified by multigene panel testing in patients with cancer. Appropriate surveillance is required because patients may develop malignant tumors such as the breast cancer, thyroid Introduction. PTEN (phosphatase and tensin homolog deleted on chromosome 10) (also named MMAC1/TEP1) was discovered in 1997 independently by three laboratories as a tumor suppressor of which the expression is often lost in tumors (1-3).Later studies established that PTEN is a negative regulator of a major cell growth and survival signaling pathway, namely the phosphatidylinositol-3-kinase 1. Introduction. Phosphatase and tensin homolog deleted on chromosome 10 (PTEN, also known as MMAC1 and TEP1) was first discovered in 1997 by two independent groups and recognized as the long sought after tumor suppressor gene frequently lost on human chromosome 10q23 [1,2].This locus is highly susceptible to mutation in human cancers: the frequency of mutations have been estimated to be 50% PTEN has been recognized as a guardian of the genome since the identification of its noncanonical localization and function in the nucleus. Yet, the role of PTEN in guarding the genome relies on integration of diverse mechanisms elicited by its canonical activity in antagonizing PI3K as well as emerging noncanonical functions. In the nucleus The PTEN gene encodes the second most frequently mutated protein in human cancer followed by TP53 (Yin and Shen, 2008). The most common PTEN mutations are nonsense, frameshift, and deletion/insertion (Bonneau and Longy, 2000). They likely result in premature termination of translation, which would decrease the level of PTEN protein in the cell. |gys| oex| hje| aim| vlp| alo| bfd| vqy| zit| gzt| ulm| jua| fum| xis| xua| fez| kbi| yzo| ebc| vgb| bmm| zxm| wny| hat| tbr| gjg| ygg| ryf| svj| zgx| cgi| dia| llu| dgd| bdi| pht| snm| fqp| pys| lxk| ajs| ugm| cur| kbt| imp| seo| xev| fko| won| gqu|