− | KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (90%)[3], genetical tract cancers (22%), haematopoietic and lymphoid cancers (13.8%), Melanomas (7%) ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]). | + | KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (GIST, a soft tissue sarcoma) (90%)[3], genetical tract cancers (22%), hematopoietic and lymphoid cancers (13.8%), and Melanomas (7%) ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]). |
| [http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms] | | [http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms] |
− | This gene encodes the human homolog of the proto-oncogene c-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. ([https://www.uniprot.org/uniprot/P10721 adapted from UniProt Description]).
| + | The KIT gene encodes tyrosine kinase protein receptor and is the human homolog of the proto-oncogene first described in the feline sarcoma virus, v-KIT. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. The Kit protein plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. ([https://www.uniprot.org/uniprot/P10721 adapted from UniProt Description]). |
− | Mutaions in Kit are found clustered in the juxtamembrane domain, and the XX doamin and The most common mutations found in KIT occur in the Tyrosine Kinase domain, with the vast majority being at the D816 residue ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]).
| + | Mutations in KIT are found clustered in the C-terminal tyrosine kinase domain, the majority occuring at postion D816juxtamembrane domain, and the XX doamin and The most common mutations found in KIT occur in the Tyrosine Kinase domain, with the vast majority being at the D816 residue ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit see COSMIC]). |