• Mutations
  • Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behavior, mental retardation and cancer. (wikipedia.org)
  • RNAi silencing can also strongly inhibit proliferation of cells with genetic mutations that encourage oncogenic activation. (wikipedia.org)
  • Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML). (wikipedia.org)
  • Due to evidence of conserved homology between the v-Src gene and its host (animal) genomes, and its non-essential status for viral reproduction, the v-Src gene is likely to have been acquired from a host genome and altered by subsequent mutations. (wikipedia.org)
  • These subsequent mutations are responsible for the oncogenic capabilities of the virus, as the normal (host) version of the Src gene, c-Src promotes survival, angiogenesis, proliferation and invasion pathways. (wikipedia.org)
  • The ALK gene can be oncogenic in three ways - by forming a fusion gene with any of several other genes, by gaining additional gene copies or with mutations of the actual DNA code for the gene itself. (wikipedia.org)
  • Through loss-of-function and gain-of-function mutations in tumor suppressor genes as well as the K-ras oncogene, mouse models of many types of cancer have been constructed, including pancreatic cancer, astrocytoma, endometrioid ovarian cancer, colorectal cancer, sarcoma, retinoblastoma, and tumors of the peripheral nervous system. (wikipedia.org)
  • proteins
  • The detecting methods to inventory gene fusion events on a large biological scale can provide insights about the multi modular architecture of proteins. (wikipedia.org)
  • Other parameters considered to be critical are the location of the miRNAs on the strand, cancer associated genomic regions, epigenetic alteration of miRNA expression and abnormalities in processing target genes and proteins. (wikipedia.org)
  • ERG and its fusion proteins EWS-ERG and TLS/FUS-ERG inhibit apoptosis. (wikipedia.org)
  • Gag genes are part of a general architecture for retroviruses, viruses that replicate through reverse transcription, where the gag region of the genome encodes proteins that constitute the matrix, capsid and nucleocapsid of the mature virus particles. (wikipedia.org)
  • The transcription of RUNX1 is regulated by 2 enhancers (regulatory element 1 and regulatory element 2), and these tissue specific enhancers enable the binding of lymphoid or erythroid regulatory proteins, therefore the gene activity of RUNX1 is highly active in the haematopoietic system. (wikipedia.org)
  • tumors
  • The drug is orally administered, once daily, and is being studied in patients whose tumors have been shown to have fusions in NTRK1/2/3, ALK, or ROS1. (wikipedia.org)
  • Interim results from two ongoing phase 1 trials have been reported at the 2016 AACR American Association for Cancer Research Conference in April 2016: among the patients treated with entrectinib, four patients had tumors harboring NTRK fusions, including patients with non-small cell lung cancer (NSCLC), mCRC, salivary gland cancer, and astrocytoma. (wikipedia.org)
  • The preliminary results seen with entrectinib in the phase I studies of patients with NTRK/ROS1/ALK fusions have led to the initiation of an open-label, multicenter, global, phase II basket study to examine the use of entrectinib in patients having tumors with these gene rearrangements. (wikipedia.org)
  • Gene rearrangements involving the ROS1 gene were first detected in glioblastoma tumors and cell lines. (wikipedia.org)
  • oncogenes
  • The latter is common in lymphomas, where oncogenes are juxtaposed to the promoters of the immunoglobulin genes. (wikipedia.org)
  • Most oncogenes began as proto-oncogenes, normal genes involved in cell growth and proliferation or inhibition of apoptosis. (wikipedia.org)
  • If normal genes promoting cellular growth, through mutation, are up-regulated, (gain of function mutation) they will predispose the cell to cancer and are thus termed oncogenes. (wikipedia.org)
  • Usually multiple oncogenes, along with mutated apoptotic and/or tumor suppressor genes will all act in concert to cause cancer. (wikipedia.org)
  • The expression of oncogenes can be regulated by microRNAs (miRNAs), small RNAs 21-25 nucleotides in length that control gene expression by downregulating them. (wikipedia.org)
  • Note that since the viral oncogenes originated from a host genome, the transformation event is different from transduction, which describes the process of introducing non-native genes to a host organism via a viral infection. (wikipedia.org)
  • cancer
  • The first fusion gene was described in cancer cells in the early 1980s. (wikipedia.org)
  • BCAM-AKT2 is a fusion gene that is specific and unique to high-grade serous ovarian cancer. (wikipedia.org)
  • Since chromosomal translocations play such a significant role in neoplasia, a specialized database of chromosomal aberrations and gene fusions in cancer has been created. (wikipedia.org)
  • This database is called Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. (wikipedia.org)
  • Presence of certain chromosomal aberrations and their resulting fusion genes is commonly used within cancer diagnostics in order to set a precise diagnosis. (wikipedia.org)
  • An oncogene is a gene that has the potential to cause cancer. (wikipedia.org)
  • Later on the term "oncogene" was rediscovered in 1969 by National Cancer Institute scientists George Todaro and Robert Heubner. (wikipedia.org)
  • Clinical data supports the use of crizotinib in lung cancer patients with ROS1 gene fusions. (wikipedia.org)
  • Crizotinib or other ROS1 inhibitors may be effective in other tumor histologies beyond lung cancer as demonstrated by a patient with an inflammatory myofibroblastic tumor harboring a ROS1 fusion with a dramatic response to crizotinib. (wikipedia.org)
  • ERG can fuse with TMPRSS2 protein to form an oncogenic fusion gene that is commonly found in human prostate cancer, especially in hormone-refractory prostate cancer. (wikipedia.org)
  • The gag-onc fusion protein (also written as Gag-v-Onc, with "v" indicating that the Onc sequence resides in a viral genome) is a general term for a fusion protein formed from a group-specific antigen ('gag') gene and that of an oncogene ('onc'), a gene that plays a role in the development of a cancer. (wikipedia.org)
  • The EML4-ALK fusion gene is responsible for approximately 3-5% of non-small-cell lung cancer(NSCLC). (wikipedia.org)
  • He also sits on the board of directors at Thermo Fisher Scientific, Inc. and Aveo Pharmaceuticals Inc. He is a member of the Scientific Advisory Board at T2Biosystems, Inc. and at Epizyme, Inc. He has pioneered the use of gene-targeting technology in mice to study cancer-associated genes and to construct mouse models of many human cancer types. (wikipedia.org)
  • viral gene
  • c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v-Abl refers to the viral gene. (wikipedia.org)
  • ABL1
  • The broken end of chromosome 22 contains the "BCR" gene, which fuses with a fragment of chromosome 9 that contains the "ABL1" gene. (wikipedia.org)
  • Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. (wikipedia.org)
  • The ABL1 gene is expressed as either a 6- or a 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. (wikipedia.org)
  • Alternatively
  • In the case of a fusion with C-jun, the resulting "gag-jun" protein is known alternatively as p65). (wikipedia.org)
  • Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined. (wikipedia.org)
  • ROS1
  • The study will enroll any patient with a solid tumor having evidence of an NTRK/ROS1/ALK fusion, assuming the patient meets all other entry criteria. (wikipedia.org)
  • unreliable medical source] ROS1 fusion-positive patients tend to be younger, with a median age of 49.8 years, and never-smokers, with a diagnosis of adenocarcinoma. (wikipedia.org)
  • ROS1 expression was found in approximately 2% of NSCLC patients, and its expression was limited to those patients with ROS1 gene fusions. (wikipedia.org)
  • An open label, multicenter, global phase 2 clinical trial called STARTRK-2 is currently underway to test the drug in patients with ROS1/NTRK/ALK gene rearrangements. (wikipedia.org)
  • enzyme
  • Ubiquitin carboxyl-terminal hydrolase 8 is an enzyme that in humans is encoded by the USP8 gene. (wikipedia.org)
  • genome
  • In recent years, next generation sequencing technology has already become available to screen known and novel gene fusion events on a genome wide scale. (wikipedia.org)
  • Human ASPSCR1 genome location and ASPSCR1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Presence
  • These native pathways are disrupted in the presence of the mutant Src gene (v-Src) such that oncogenesis becomes more likely for the infected host cells, since the v-Src gene is translated into a functionally distinct version of its host counterpart. (wikipedia.org)