Malignancies novel gene fusion oncogenic oncogene fusion. Medical search. Frequent questions

AKT-independent signaling downstream of oncogenic PIK3CA mutations in human cancer. (starrcancer.org)
Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). (nature.com)
Multiple large cohort studies of adult MDS patients found recurrent mutations in genes important in epigenetic regulation (e.g. (nature.com)
We show that Ras/MAPK pathway mutations are common in pediatric primary MDS (45%) while mutations in RNA splicing genes are rare (2%), and that germline SAMD9/SAMD9L mutations are present in 17% of primary MDS patients. (nature.com)
Molecular diagnostic algorithms have undergone a significant evolution over time, moving from a 'one-gene, one-test' paradigm to the inclusion of multiplex assays for common hotspot point mutations, and insertions and deletions. (gotoper.com)
While current testing in most centers is charac-terized by a combination of several different single-gene or multiplex diagnostic assays, the advent of next-generation sequencing has provided a means of interrogating mutations, rearrangements, and copy number changes across a variety of therapeutically relevant oncogenes and tumor suppressor genes in a single test. (gotoper.com)
These recurrent genomic alterations include mutations, gene re-arrangements, and copy number changes in relevant lung cancer genes ( Figure 1 ). (gotoper.com)
Recurrent mutations in proto-oncogenes comprise a large proportion of therapeutically targetable alterations in lung cancer. (gotoper.com)
16 Many of these mutations cluster around the catalytic tyrosine kinase domain of the gene of interest and result in constitutive activation of the mutant protein and down-stream pathways. (gotoper.com)
Oncogenic mutations of ALK kinase in neuroblastoma. (nature.com)
2 Gain-of-function changes, including mutations and fusions, have been associated with malignancies. (theoncologynurse.com)
2 The frequency of RET mutations or fusions varies widely but has been identified in 5% to 40% of cases of PTC. (theoncologynurse.com)
Targeted cross types capture-based sequencing (21) through the sufferers eighth calendar year of treatment uncovered mutations in as well as the promoter, and a rearrangement relating to the gene that was reported being a variant of unidentified significance. (ecplf2017.org)
Disruption from the interaction between your PH and kinase domains provides been shown to bring about constitutive activation of AKT1, and mutations destabilizing this relationship could be oncogenic (24,25). (ecplf2017.org)
Mutations in this gene are associated with type 1 elliptocytosis (EL1). (cancerindex.org)
Germline mutations in the NOTCH1 , NOTCH2 and NOTCH3 genes cause Adams-Oliver syndrome, Alagille syndrome and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, respectively ( 4 ), and DLL4-NOTCH3 signaling in human vascular organoids induces basement membrane thickening and drives vasculopathy in the diabetic microenvironment ( 5 ). (spandidos-publications.com)
MET exon-14-skipping mutations - The MET exon-14-skipping mutation reduces degradation of the MET protein, causing it to behave as an oncogenic driver. (parsianpharma.com)
Mutations and gene amplifications that confer drug resistance emerge frequently during chemotherapy, but their mechanism and timing are poorly understood. (babraham.ac.uk)
Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. (thermofisher.com)

As a result, growing evidence support the role of this transcription factor in the pathogenesis number of human hematological and solid malignancies. (oncotarget.com)
Constitutive p50/p65 activity is observed in a large variety of hematological as well as solid tumors [ 6 - 8 ], as a result of an aberrant expression of p50/p65, deletions of the IκBα inhibitor gene or an increased IKK activity [ 9 - 13 ]. (oncotarget.com)
Friend leukemia virus integration 1 (FLI1), an ETS transcription factor family member, acts as an oncogenic driver in hematological malignancies and promotes tumor growth in solid tumors. (biomedcentral.com)
Notch signaling is aberrantly activated in breast cancer, non‑small‑cell lung cancer and hematological malignancies, such as T‑cell acute lymphoblastic leukemia and diffuse large B‑cell lymphoma. (spandidos-publications.com)

In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
Ever since the discovery of the Philadelphia chromosome in 1960, a number of different chromosomal translocations have been identified in human cancer that result in the formation of potent fusion oncogenes, abnormal activation of latent proto-oncogenes, or other oncogenic events. (sbpdiscovery.org)

among individuals living near Chernobyl who were exposed to radiation, approximately 72% of tumors contained RET/PTC fusions. (theoncologynurse.com)
However, little is known about the mechanisms underlying the activation of this proto-oncogene in tumors. (biomedcentral.com)
Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
Anaplastic large cell lymphoma with anaplastic lymphoma kinase gene translocations (ALK+ ALCL) is a mature T-cell lymphoma that primarily affects lymph nodes, but also gives rise to tumors in extranodal organs and occasional characteristic skin lesions. (biomedcentral.com)
We have tested it on matched RNA-Seq and WGS data for both tumors and cancer cell lines and show that it can be used to validate both new predicted gene fusions and experimentally validated fusion events. (biomedcentral.com)

CONCLUSIONS: The Plasma-SeqSensei™ SOLID CANCER IVD kit resulted in de novo detection of targetable oncogenic drivers and resistance alterations, with a high sensitivity and accuracy for low and high cfDNA inputs. (bvsalud.org)
Despite these successes, many pathognomonic fusion oncogenes aren't targetable with obtainable therapies currently. (ecplf2017.org)
Compared to patients with pan-wild-type NSCLC (i.e. patients who have NSCLC without a known targetable, driver oncogene such as EGFR or ALK ), patients who harbor ALK- activated NSCLC tend to be light or never smokers, younger, male, and at more advanced stage. (parsianpharma.com)

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (starrcancer.org)
Recent studies show that certain phenotypes of gliomas such as malignancy, resistance to therapy, and relapses are associated with the epigenetic alterations of tumour-specific genes. (hindawi.com)
By contrast, somatic alterations in the genes encoding Notch signaling components drive various types of human cancer, such as breast cancer, small-cell lung cancer (SCLC) and T-cell acute lymphoblastic leukemia (T-ALL) ( 6 - 9 ). (spandidos-publications.com)
These abnormalities result in significant alterations in gene expression related to cell proliferation, apoptosis, migration and immune signaling pathways. (spandidos-publications.com)
Furthermore, we discuss recent findings on EBV associated gastric carcinogenesis by focusing on the roles of latent genes, epigenetic abnormalities, genomic alterations, and post-transcriptional regulation by cellular and viral microRNAs (miRNAs). (spandidos-publications.com)
Nowell, a tumor biologist in the pathology department at the University of Pennsylvania School of Medicine, was interested in the relationship between cancer and alterations in genes (although he had no proof there was one). (laskerfoundation.org)

The tyrosine kinase of the ETV6-NTRK3 fusion protein is dysfunctional in that it is continuously active in phosphorylating tyrosine residues on, and thereby continuously stimulating, proteins that promote the growth, survival, and proliferation of their parent cells. (wikipedia.org)
Because cancers associated with the expression of the ETV6-NTRK3 fusion protein are known or suspected of being a direct consequence of overly active ETV6-NTRK3's tyrosine kinase, it has been proposed that tyrosine kinase inhibitors with specificity for NTRK3 may be of therapeutic usefulness in these cancers. (wikipedia.org)
Entrectinib is a pan-NTRK as well as an ALK and ROS1 tyrosine kinase inhibitor has been found useful in treating a single patient with ETV6-NRTK3 fusion gene-associated mammary analogue secretory carcinoma and has lend support to the clinical development of NTRK3-directed tyrosine kinase inhibitors to treat ETV6-NTRK3 fusion protein associated malignancies. (wikipedia.org)
Expression of ALK in malignant T cells is typically due to the t(2;5) translocation resulting in formation of the fusion gene which encodes a 80-kDa hybrid protein that contains portion of the nuclear protein nucleophosmin (NPM) joined to the entire cytoplasmic portion of the receptor tyrosine kinase ALK. (upenn.edu)
ALK , the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK). (nature.com)
RET (rearrangement during transfection) is a tyrosine kinase receptor that, when fused with a partner molecule, activates oncogenic activity and promotes unchecked cellular proliferation. (theoncologynurse.com)
4 These fusions can result in ligand-independent activation of RET , 4 and because in all fusions the tyrosine kinase function of RET is preserved, 5 this results in unchecked cellular proliferation. (theoncologynurse.com)
Upon cytokine activation receptor chain- bound STATs are then phosphorylated on the tyrosine residues, which results in dimerisation of STAT proteins that translocate to the nucleus and activate gene transcription. (openrheumatologyjournal.com)
In addition, the BCR-ABL fusion gene product, a constitutively activated tyrosine kinase which is crucial for the development of chronic myeloid leukemia (CML), is highly sensitive to bosutinib. (mdm2-receptor.com)

This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. (cancerindex.org)
This lymphoma is caused by chromosomal translocations involving the anaplastic lymphoma kinase gene (ALK). (biomedcentral.com)
Initially was developed as a MET inhibitor, crizotinib had activity in anaplastic lymphoma kinase ( ALK ) fusions and ROS1 rearrangements. (parsianpharma.com)

Moreover, we are also interested in understanding the propensity of certain genomic loci for recurrent involvement in oncogenic chromosomal translocation events in the context of human myeloid malignancies. (sbpdiscovery.org)

Indeed, the ETV6-NTRK3 fusion gene appears to be a critical driver of several types of cancers. (wikipedia.org)
Systematic RNA interference reveals that oncogenic KRAS-driven cancers require TBK1. (starrcancer.org)
While loss of wild-type p53 causes fatal damages to the genome, it is not surprising that the TP53 gene is mutated in more than 50% human cancers, and the functions of p53 are often impeded through various mechanisms in the remainder ( Levine and Oren, 2009 ). (elifesciences.org)
17,20 Similar to EGFR -mutant lung cancers, for patients with ALK fusion-positive lung cancers, treatment with crizotinib is superior to chemotherapy. (gotoper.com)
21 ROS1 and RET fusions are each found in approximately 1% to 2% of unselected lung cancers, and responses to crizotinib and cabozantinib, respectively, have been described in early studies. (gotoper.com)
Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
Currently, selpercatinib has FDA-approved indications for the treatment of metastatic RET fusion-positive non-small cell lung cancer (NSCLC) and thyroid cancers, as well as RET- mutant medullary thyroid cancer (MTC) requiring systemic treatment. (jnccn.org)

1. Role of the cytokine-signal transduction pathways and epigenetic gene silencing in pathogenesis of T-cell lymphoma. (upenn.edu)
The phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian focus on of rapamycin (mTOR) pathway regulates fat burning capacity, homeostasis, success, and proliferation, and is currently well understood to truly have a function in the pathogenesis of multiple malignancies (15). (ecplf2017.org)

The ETV6 gene codes for the transcription factor protein, ETV6, which suppresses the expression of, and thereby regulates, various genes that in mice are required for normal hematopoiesis as well as the development and maintenance of the vascular network. (wikipedia.org)
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
We are studying the effects and consequences of protein fusion on the transcriptional and transforming activities of these proteins using in vitro and animal models. (stanford.edu)
The methylation status and protein expression levels of RUNX3 were measured by methylation-specific PCR and Western blot in 136 and 72 different malignancy grade glioma tissues, respectively. (hindawi.com)
The results demonstrate that RUNX3 gene methylation and protein expression downregulation are glioma malignancy dependent and contribute to tumour progression. (hindawi.com)
Fusion of a kinase gene, ALK , to a nucleolar protein gene, NPM , in non-Hodgkin's lymphoma. (nature.com)
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Among the genes and pathways controlled by TET1, we found ribosomal biogenesis and translational control of protein synthesis highly enriched. (biomedcentral.com)
[ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
In cancer, genomic rearrangements can create fusion genes that either combine protein-coding sequences from two different partner genes or place one gene under the control of the promoter of another gene. (biomedcentral.com)
This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. (thermofisher.com)

The ALK gene is a hotspot for chromosomal translocation events that result in several fusion proteins that cause a variety of human malignancies 3 . (nature.com)

The spectrum of genes harboring germline variants in pediatric MDS has also recently begun to expand beyond transcription factors, including ANKRD26 17 and SRP72 18 . (nature.com)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)

Recurrent gene rearrangements involving ALK, ROS1, RET, and NTRK have emerged as important drivers of tumor growth in lung cancer. (gotoper.com)
Despite proof for hyperactivation or mutation from the AKT proteins and their encircling axis in a variety of adult-onset and subsets of pediatric malignancies (5C9), just uncommon oncogenic fusions, regarding ((fusion was defined and initially regarded as recurrent in breasts cancer tumor (12), but thereafter cannot end up being validated (13), and was afterwards amended to become noted in a single index case just (14). (ecplf2017.org)

ROS1 and RET fusions. (theoncologynurse.com)
Only a few years later, crizotinib was the first approved TKI by the US Food and Drug Administration (FDA) for the treatment of advanced NSCLC that has spread to other parts of the body and is caused by a defect in either a gene called ALK or a gene called ROS1. (parsianpharma.com)

Previous studies have shown that some EBV latent genes have oncogenic properties. (spandidos-publications.com)

The NPM/ALK kinase is constitutively activated and highly oncogenic. (upenn.edu)

Emboldened by unprecedented response rates to kinase inhibitors seen in that subset, the oncologic scientists searched for other molecular subsets featuring oncogene addiction. (parsianpharma.com)

Subsequent studies revealed that EBV caused a number of different human malignancies, such as nasopharyngeal carcinoma (NPC), Hodgkin's lymphoma, extranodal NK/T-cell lymphoma, nasal type and lymphoproliferative disorders of immunocompromised hosts ( 2 ). (spandidos-publications.com)

This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
A fetal tumor suppressor axis abrogates MLL-fusion-driven acute myeloid leukemia. (harvard.edu)
Here, we report that in T cell acute lymphoblastic leukemia (T-ALL) the MYC oncogene controls the expression of TET1 and TET2 to maintain 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) patterns, which is associated with tumor cell-specific gene expression. (biomedcentral.com)
We are currently investigating genetic and epigenetic abnormalities in Acute Myeloid Leukemia (AML) using mouse models, gene targeting and genome-scale approaches. (sbpdiscovery.org)
Acute Myeloid Leukemia Driven by the CALM-AF10 Fusion Gene is Dependent on BMI1 Exp Hematol. (thedeshpandelab.com)
The basic helix-loop-helix transcription factor SHARP1 is an oncogenic driver in MLL-AF6 acute myelogenous leukemia. (thedeshpandelab.com)

Runt-related transcription factor 3 ( RUNX3 ) is feasible tumour suppressor gene since its inactivation was shown to be related to carcinogenesis. (hindawi.com)
Canonical Notch signaling activates the transcription of BMI1 proto‑oncogene polycomb ring finger, cyclin D1, CD44, cyclin dependent kinase inhibitor 1A, hes family bHLH transcription factor 1, hes related family bHLH transcription factor with YRPW motif 1, MYC, NOTCH3, RE1 silencing transcription factor and transcription factor 7 in a cellular context‑dependent manner, while non‑canonical Notch signaling activates NF‑κB and Rac family small GTPase 1. (spandidos-publications.com)
encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
Translocation of EWSR1 (Ewing sarcoma breakpoint region 1) with an ETS (E26 transformation-specific) transcription factor gene occurs in more than 95% of Ewing sarcomas. (medscape.com)

These fusion genes can act as oncogenic drivers in tumor development and several fusions involving kinases have been successfully exploited as drug targets. (biomedcentral.com)

Molecular Detection of Oncogenic Gene Rearrangements. (harvard.edu)
Chromosomal rearrangements involving RET generate fusion transcripts that pair the 3′ end of RET with the 5′ end of another gene. (theoncologynurse.com)
2 At this time, 13 oncogenic RET/PTC fusions have been identified, 6 and approximately 90% of RET rearrangements are RET/PTC1 and RET/PTC3 . (theoncologynurse.com)

In-frame fusions that produce chimeric proteins often drive cancer development and progression via dysregulation of signaling pathways related to the fusion genes. (biomedcentral.com)

Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML. (thedeshpandelab.com)

Selumetinib causes long-term G1 arrest accompanied by reduced expression of DNA replication and repair genes, but cells stochastically re-enter the cell cycle during treatment despite continued repression of pERK1/2. (babraham.ac.uk)

Clinical concordance for plasma detection of known oncogenic drivers was reported. (bvsalud.org)
Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. (starrcancer.org)

Aberrant cell signaling and epigenetic regulation of gene expression in human lymphomas. (upenn.edu)

Additionally, the defined fusion retains the entire kinase area aswell as the main element phosphorylation sites, T308 and S473, of AKT1 (Fig. 1A), enabling its activation. (ecplf2017.org)
Nrf2 stabilization and increase in its half-life even to 200 min [ 9 ] allows nuclear translocation and activation of transcription of cytoprotective genes (Fig. 1 ). (springer.com)

ETV6-NTRK3 gene fusion is the translocation of genetic material between the ETV6 gene located on the short arm (designated p) of chromosome 12 at position p13.2 (i.e. 12p13.2) and the NTRK3 gene located on the long arm (designated q) of chromosome 15 at position q25.3 (i.e. 15q25.3) to create the (12;15)(p13;q25) fusion gene, ETV6-NTRK3. (wikipedia.org)
Gene Chromosome Canc. (thedeshpandelab.com)
At a time when the idea that cancer had a genetic basis was widely disbelieved, Nowell's results provided the first clear evidence that a particular genetic defect in a single chromosome can lead to a population or clone of identical cells that accumulate in numbers to form a deadly malignancy. (laskerfoundation.org)
Moreover, a tiny piece of chromosome 9, which carried an oncogene, had moved to the breakpoint on chromosome 22. (laskerfoundation.org)
Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)

This new gene consists of the 5' end of ETV6 fused to the 3' end of NTRK3. (wikipedia.org)

This review summarizes the common oncogenic aberrations that occur in NSCLC and the diagnostic assays that are poised to detect them. (gotoper.com)
But even so, many researchers continued to believe that genetic aberrations were the result, not the cause, of malignancy. (laskerfoundation.org)

Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)

Our most recent work focuses on the molecular mechanisms of the aberrant gene silencing in the malignant lymphoid cells. (upenn.edu)

One of the most significant developments was the identification of specific gene changes that define types of NSCLC. (parsianpharma.com)

thus, it is likely that additional oncogenic drivers play a role in preventing apoptosis and allowing cellular proliferation that results in PTC. (theoncologynurse.com)
The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)

Furthermore, post-transcriptional gene expression regulation by cellular and/or EBV-derived microRNAs has attracted considerable attention. (spandidos-publications.com)

Rearranged during transfection fusions in non-small cell lung cancer. (theoncologynurse.com)

We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
Altogether, our findings reveal that the oncogenic property of SPIN1 may be attributed to its negative regulation of uL18, leading to p53 inactivation. (elifesciences.org)
Therefore, precise regulation of Wnt/β-catenin signaling as a cancer-targeting strategy may contribute to the treatment of some malignancies. (frontiersin.org)

Quickly picking up on her lead that translocations contribute to malignancy, scientists around the world joined the search for chromosomes that either switched genetic material or, in some cases, lost it altogether in a process known as "deletion. (laskerfoundation.org)

Brain tumour malignancy is associated with tumour heterogeneity, recurrence, patient survival, and therapy response [ 1 ]. (hindawi.com)

Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. (sarcomahelp.org)

Identification of ALK as a major familial neuroblastoma predisposition gene. (nature.com)

Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger. (starrcancer.org)

Synthetic lethal interaction between oncogenic KRAS dependency and STK33 suppression in human cancer cells. (starrcancer.org)
Humans have a duplicate set of 23 chromosomes (or a total of 46 chromosomes) in any given cell that carries all of the human genes. (sarcomahelp.org)
Liu Y, Zhang YZ, Imoto S . Microbial Gene Ontology informed deep neural network for microbe functionality discovery in human diseases. (google.com)
EBV was the first virus to be associated with human malignancy, which was discovered from a Burkitt's lymphoma cell line in 1964 ( 1 ). (spandidos-publications.com)
For instance, mice are able to reconstitute most lymphomas in monkeys and humans woodchuck hepatitis virus induces major components of the human provides strong support for a direct hepatocellular carcinoma (HCC) haematolymphoid system including oncogenic role of EBV in vivo. (who.int)

In cancer, gene fusions occur frequently due to the genetic instability of cancer cells. (biomedcentral.com)

Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (cancerindex.org)
Whole-genome sequencing (WGS) has the advantage of being able to detect structural variants at a genomic scale, but it is challenging to assess whether a fusion event found purely at the DNA level has the potential to be processed into a functional transcript. (biomedcentral.com)

Such tumor profiles can subsequently be applied to exclusively tailor cancer therapies to directly target a causative mutation for a malignancy, ultimately achieving a personalized and precise approach to cancer treatment. (biomedcentral.com)

In a clinical setting, it could help find expressed gene fusions for personalized therapy. (biomedcentral.com)
In conclusion, bosutinib is a promising novel small molecule inhibitor approved now for targeted therapy of CML and in clinical development for other malignancies. (mdm2-receptor.com)

Nijmegen breakage) have an increased incidence of malignancy in general. (haematologica.org)

This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. (cancerindex.org)
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. (cancerindex.org)

These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
This can lead to the formation of a chimeric gene that combines functional domains from both fusion partner genes, or to a promoter swapping event, where the promoter of one gene is replaced with another, leading to altered gene expression. (biomedcentral.com)
Gene fusions are commonly detected in RNA sequencing (RNA-Seq) data in the form of chimeric fusion transcripts. (biomedcentral.com)

Our findings demonstrate that acquisition of MEK inhibitor resistance often occurs through gene amplification and can be suppressed by impeding cell cycle entry in drug. (babraham.ac.uk)

This study may result in novel therapies for lymphoma based on selective inhibition of the elements of the IL-2R signal transduction pathway(s) which are preferentially utilized by malignant T cells and/or on induction of re-expression of the epigenetically-silenced SHP-1 gene. (upenn.edu)
Gene fusions can help identify patients who are likely to respond to targeted therapies, allowing selection of the most appropriate treatment option for each patient. (biomedcentral.com)

Regardless of the central function of AKT1 within this axis, there possess considerably been simply no oncogenic fusions identified involving this gene hence. (ecplf2017.org)

Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
The oncogenic potential of the NPM-ALK fusion gene was first demonstrated in vitro using murine cell lines and primary cells. (biomedcentral.com)
Fusions can impact the cell in several ways. (biomedcentral.com)
One exception is hu- humanized SCID mice, the use of al oncogenic viruses that are strictly man T-cell lymphotropic virus type 1 surrogate hosts has not proven very species-specific, causing cancer in (HTLV-1): in addition to its ability to useful for defining tumour site con- humans only. (who.int)
Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)

Anatomy1

Organisms1

Diseases2

Chemicals and Drugs10

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes16

Information Science3

Mutations19

Hematological4

Proto-oncogenes3

Tumors5

Targetable3

Alterations6

Tyrosine9

Anaplastic lympho3

Myeloid malignancies1

Cancers7

Pathogenesis2

Protein15

Chromosomal translocation events1

Germline3

Recurrent2

ROS12

Latent1

Constitutively activated1

Subsets1

Nasopharyngeal carcinoma1

Acute6

Transcription factor4

Kinases1

Rearrangements3

Pathways1

Methylation1

Repair genes1

Detection2

Epigenetic regulation1

Activation2

Chromosome5

ETV61

Aberrations2

Proteins encoded1

Molecular1

NSCLC1

Apoptosis3

Expression Regulation1

Transfection1

Regulation3

Translocations1

Heterogeneity1

Cellular1

Neuroblastoma1

Dysregulation1

Human5

Genetic1

Variants2

Mutation1

Clinical2

Incidence1

Susceptibility2

Chimeric3

Resistance1

Therapies2

Considerably1

Cell5