Detection of egfr gene amplification. Medical search. Frequent questions

Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. (healthcare-biotech.com)
This device is a real-time PCR test for the qualitative detection of exon 19 deletions and exon 21 (L858R) substitution mutations of the epidermal growth factor receptor (EGFR) gene in DNA derived from formalin-fixed paraffin-embedded (FFPET) human non-small cell lung cancer (NSCLC) tumor tissue. (pdffox.com)
2. The cobas® EGFR Mutation Test v2 kit provides reagents for automated real-time PCR amplification and detection of the EGFR mutations. (pdffox.com)
Our study offers a practical method for detecting oncogene amplifications and large intragenic mutations in a clinically implemented hotspot panel that can be quantified using z scores. (touro.edu)
Structural analyses and computational modeling indicate that EGFR G724S mutations may induce a conformation of the glycine-rich loop, which is incompatible with the binding of third-generation TKIs. (nature.com)
The identification of EGFR mutations and the discovery of their exquisite sensitivity to epidermal growth factor receptor (EGFR) inhibitors dramatically changed the therapeutic routine for lung adenocarcinoma (LADC) patients 1 , 2 , 3 . (nature.com)
The test allows for the simultaneous detection of point mutations and gene amplifications in 40 genes, including known hotspot regions in oncogenes (KRAS, BRAF), inactivating mutations in tumor suppressors (TP53, PTEN), and oncogene amplifications (ERBB2, EGFR). (knaw.nl)
All point mutations were confirmed using certified diagnostic assays, and a sensitivity and specificity of 100% (95% CI, 0.875-1.0) and 99% (95% CI, 0.960-0.999), respectively, were determined for amplifications in FFPE material. (knaw.nl)
Implementation of a single assay to effectively detect mutations and amplifications in clinically relevant genes not only improves the efficiency of the workflow within diagnostic laboratories but also increases the chance of detecting (rare) actionable variants for a given tumor type that are typically missed in routine pathology. (knaw.nl)
Treatment response to these drugs depends on the presence of activating mutations in EGFR (L858R and exon 19 deletions) in NSCLC and on the absence of mutations in the KRAS, BRAF and NRAS in CCR. (fapesp.br)
Besides the occurence of mutations in the region corresponding to the ectodomain of EGFR (T790M) and MET gene amplification, which are often found in patients with NSCLC, mutations in genes members of the EGFR pathway, such as KRAS, BRAF and NRAS, have also been reported in CCR patients with acquired resistance to anti-EGFR therapy. (fapesp.br)
ctDNA fragments harbor molecular alterations that are found in the tumor genome such as gene mutations, copy number variations, and other genomic features, which can be identified using next-generation sequencing (NGS) technologies. (springernature.com)
The molecular alterations associated with these processes include gene amplification, point mutations within the exon coding for the ALK tyrosine kinase domain, and activation of bypass signaling pathways that include MET , EGFR , and KIT 2-4 . (springernature.com)
Early detection of resistance mutations could prompt clinicians to halt ineffective treatments and facilitate a therapy switch. (springernature.com)
In this study, the results indicate several EGFR mutations were easily detected specifically utilizing the STexS platform. (researchsquare.com)
Further trials show the novel method works effectively to discriminate mutations in not only general allele specific (AS)-PCRs, but also amplification refractory mutation system (ARMS)-PCR. (researchsquare.com)
In patients whose lung adenocarcinomas harbor epidermal growth factor receptor (EGFR) tyrosine kinase domain mutations, acquired resistance to the tyrosine kinase inhibitors (TKI) gefitinib (Iressa) and erlotinib (Tarceva) has been associated with a second-site EGFR mutation, which leads to substitution of methionine for threonine at position 790 (T790M). (aacrjournals.org)
We aimed to elucidate the frequency and nature of secondary EGFR mutations in patients with acquired resistance to TKI monotherapy. (aacrjournals.org)
Tumor cells from patients with acquired resistance were examined for secondary EGFR kinase domain mutations by molecular analyses. (aacrjournals.org)
ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
Lung cancer with epidermal growth factor receptor (EGFR)-activating mutations responds favorably to the EGFR tyrosine kinase inhibitors gefitinib and erlotinib. (aacrjournals.org)
However, 25% to 30% of patients with EGFR -activating mutations show intrinsic resistance, and the responders invariably acquire resistance to gefitinib. (aacrjournals.org)
Here, we showed that hepatocyte growth factor (HGF), a ligand of MET oncoprotein, induces gefitinib resistance of lung adenocarcinoma cells with EGFR -activating mutations by restoring the phosphatidylinositol 3-kinase/Akt signaling pathway via phosphorylation of MET, but not EGFR or ErbB3. (aacrjournals.org)
This stems from the 'long-tail phenomenon' which states that cancer mutations are characterized by a small number of frequently mutated genes and a large number of infrequently mutated genes [ 18 ],[ 19 ]. (biomedcentral.com)
Patients with MET exon 14 skipping mutations or MET amplifications, according to the gene copy number in tumor tissue, were enrolled. (onclive.com)
Molecular data have indicated a direct progression from diffuse astrocytoma to anaplastic astrocytoma to glioblastoma in patients whose tumors bear mutations in the IDH1/2 genes and TP53 genes, a finding that marks the pathogenic pathway of 5% of all glioblastomas. (medscape.com)
in addition, they indicated recurrent mutations in the promoter region of telomerase (TERT) that reactivates the gene. (medscape.com)
Lung cancer is driven by different molecular alterations, including the epidermal growth factor receptor (EGFR) mutations and the rearrangements of the anaplastic lymphoma kinase (ALK) and the c-ros1 (ROS1) genes. (biomedcentral.com)
Among these mutations, the gene encoding human epidermal growth factor receptor 2 (called HER2, EGFR2, NEU, or ERBB2) is a hot new therapeutic target. (biomedcentral.com)
Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer. (cdc.gov)
Detection of epidermal growth factor receptor (EGFR) is one real dilemma owing to the non-sufficient tissue for testing EGFR mutations in lung adenocarcinoma. (elis.sk)
A model for predicting EGFR mutations would be helpful for clinical decisions in those patients. (elis.sk)
Decision curve analysis (DCA) further confirmed the clinical usefulness of the nomogram, which showed that predicting the EGFR mutations probability applying this nomogram would be better than having all patients or none patients use this nomogram. (elis.sk)
In summary, the lung is the primary tissue observed for somatic mutations in MET (21.58%) and the specific MET gene amplification is seen in 2-4% of previously untreated NSCLC (6). (goldenhelix.com)
Hereditary breast and ovarian cancer is generally associated with mutations in BRCA1 and BRCA2 genes. (safembryo.com)
However, when these genes have certain mutations, they lose their functionality and cannot block or impede tumour development. (safembryo.com)
Thus, in a large proportion of the inherited forms of breast cancer, mutations occur in these two genes, whereas the carriers of these mutations are also predisposed to ovarian cancer. (safembryo.com)
Particularly important is the screening of BRCA1 and BRCA2 gene mutations in individuals who have already been diagnosed, as the carriers of these mutations have an increased chance of recurrence of cancer. (safembryo.com)
The methodology used is genetic analysis of the base sequence of the BRCA1 and BRCA2 genes (DNA sequencing / Ion Torrent platform) to detect mutations associated with hereditary predisposition of breast and ovarian cancer with 99% sensitivity. (safembryo.com)
Real-time PCR is the most sensitive and reliable method for the detection of DNA mutations. (qiagen.com)
By combining allele-specific amplification and hydrolysis probe detection, qBiomarker Somatic Mutation real-time PCR assays have been developed which can detect as few as 1% somatic mutations in the background of wild-type genomic DNA. (qiagen.com)
qBiomarker Somatic Mutation PCR Arrays are available in 96-well and 384-well plates and are used to detect mutations related to a disease state or pathway, plus gene copy number controls for normalization. (qiagen.com)
In cancer prediction and early detection, specific germline mutations like BRCA1 and BRCA2, TP53, gene rearrangements, etc., can be detected using NGS. (medicalbuyer.co.in)
No mutations were detected in any of the seven genes in the nine cases that qualified for mutation analysis, and the results using different methods were consistent. (biomedcentral.com)
FoundationOne Liquid CDx is indicated for use as a companion diagnostic for four FDA-approved precision therapies, including an indication for Rubraca (rucaparib), a PARP inhibitor approved by the FDA for treatment of metastatic castration-resistant prostate cancer patients with BRCA1/2 mutations, and three first-line EGFR-TKIs for the treatment of non-small cell lung cancer patients. (foundationmedicine.com)
The most common alterations in the samples included mutations in the TERT promoter, the protein coding regions of TP53, IDH1, deletions of CDKn2A and CDKN2B, amplifications of EGFR, and EGFR-variant III deletion. (genomeweb.com)
This study designed to evaluate the mutations in the multi-drug resistance 1 (MDR1) gene, in biopsy specimens of Leishmania tropica , with high resolution melting (HRM) method. (biomedcentral.com)
The nucleotide changes analysis showed that 61% of the samples of different groups that were unresponsive to drug had mutations in the MDR1 gene, which were also confirmed by the sequencing method. (biomedcentral.com)
Given the importance of MDR1 gene mutations in the drug resistance of leishmania and the lack of similar study, in the present experiment, we evaluated the capacity of HRM assay for detection of MDR1 gene mutation in genomic DNA of tissue specimens of patients with skin leishmaniasis. (biomedcentral.com)

Streptavidin-peroxidase (SP) method was used to quantify protein expression of molecular markers (estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2)), molecular markers of proliferation (Ki-67 and epidermal growth factor receptor (EGFR)) and epithelial-mesenchymal transition (EMT) molecular markers (matrix metalloproteinase-2 (MMP-2), E-cadherin and downstream N-cadherin). (wjon.org)
The Epidermal Growth Factor Receptor (EGFR) was the first receptor to be proposed as a target for cancer therapy after two decades of intense research. (fapesp.br)
The epidermal growth factor receptor (EGFR) is frequently overexpressed in the most common malignant glioma, glioblastoma (GBM), and represents an important therapeutic target. (oncotarget.com)
HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
Amplification of the human epidermal growth factor receptor 2 ( HER2 ) gene and overexpression of the HER2 protein is found in 15%-20% of patients with gastric and gastroesophageal junction cancer. (wjgnet.com)
[ 6 ] A majority of these tumors will exhibit polysomy of the epidermal growth factor receptor ( EGFR ) genetic locus on chromosome 7 in subsets of tumor cells. (medscape.com)
It is one of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases, which additionally includes three different members: EGFR (or HER1/ ERBB1), HER3 (or ERBB3), and HER4 (or ERBB4). (biomedcentral.com)
Epidermal growth factor receptor in non-small-cell lung carcinomas: correlation between gene copy number and protein expression and impact on prognosis. (nih.gov)
The epidermal growth factor receptor (EGFR) is frequently overexpressed in non-small-cell lung carcinoma (NSCLC), and EGFR inhibitors are promising new therapeutic agents. (nih.gov)

We also observed alterations in other cancer-relevant genes including MET , EGFR , KRAS , KIT , and RET . (springernature.com)
Genes that are commonly mutated in lung adenocarcinoma include TP53, EGFR, KRAS and NF1(3). (goldenhelix.com)
Similarly, real-time PCR is also used for mutation detection (BCR-ABL1, PML-RARA, EGFR, KRAS, etc.) and for monitoring the drug response in cancer diagnosis and treatment. (medicalbuyer.co.in)
The data presented in this work suggest that EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 may not be driver genes in primary pulmonary adenoid cystic carcinoma. (biomedcentral.com)

At the time of diagnosis, the vast majority of these tumors will exhibit a mutation of the IDH1/2 gene and up to one half will exhibit gene mutation or deregulation of the expression of the TP53 gene. (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)
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)
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)

In this project, we intend to monitor the emergence of genetic alterations known to be associated with acquired resistance to anti-EGFR therapy in circulating tumor DNA (ctDNA) obtained from liquid biopsies collected from NSCLC patients treated with Gefitinib and Erlotinib and CCR patients treated with panitumumab and Cetuximab. (fapesp.br)
We also intend to characterize new genetic alterations associated with acquired resistance to anti-EGFR therapy through direct sequencing of ctDNA from patients with NSCLC and CCR experiencing disease progression during anti-EGFR therapy. (fapesp.br)

Even though progression occurred after 8.2 months with the growth of target lesions and a new EGFR T790M -negative and EGFR G724S -positive pleural effusion with a molecular fraction (MF, estimate of allelic fraction without calculating the purity and ploidy) of 6.3% (T2) (Supplementary Table 1C ). (nature.com)
In routine cancer molecular pathology, various independent experiments are required to determine mutation and amplification status of clinically relevant genes. (knaw.nl)
The detection of HPV DNA alone, in the absence of evidence for viral gene expression, is not unequivocal molecular evidence that HPV infection either causes or promotes malignant progression in a lesion. (biomedcentral.com)
The molecular mechanisms responsible for EGFR overexpression are poorly understood. (nih.gov)
To overcome these limitations, ongoing advancements in genetic and genomic studies have facilitated the rapid and sensitive identification of infectious diseases, using nucleic acid detection-focused molecular diagnostic tools. (medicalbuyer.co.in)
Automated systems for extraction, DNA/RNA amplification, their detection using labels have propelled the rapid development of molecular technology. (medicalbuyer.co.in)
These molecular diagnostics have become essential for the early diagnosis of infectious diseases, allowing for the detection of multiple pathogens, analysis of drug-resistant genes, and pathogen homology assessments. (medicalbuyer.co.in)
Molecular testing focuses on PCR amplification, with end-point, PCR-based multiplex testing as well as real-time PCR, where detection and amplification takes place in a single tube, reducing detection to hours (in some cases, to minutes). (clpmag.com)
Compared to other liquid biopsy applications … cerebrospinal fluid has the potential to enable more sensitive detection of ctDNA because most of the cell-free DNA in CSF is shed from tumor cells," Michael Berger, study coauthor and associate director of MSKCC's Marie-Josee and Henry R. Kravis Center for Molecular Oncology, explained in an email. (genomeweb.com)
However, the gel electrophoresis detection can only judge the molecular size of the amplified products, but can not deduce the content of DNA in the initial samples. (seesunid.com)
Most recently, GeneXpert MTB/RIF (Cepheid) advanced nucleic acid-based detection by integrating PCR and a highly sensitive molecular-beacon assay into a single, automated system. (cdc.gov)

Genetic heterogeneity, intrinsic to human tumors, and selection of genetic alterations that confer resistance to targeted therapy has been recognized as crucial for the development of acquired resistance to anti-EGFR drugs. (fapesp.br)
Additionally, there is resistance to EGFR tyrosine kinase inhibitors, but studies and case reports suggest that tumors harboring MET amplifications have increased sensitivity to MET inhibitors (7). (goldenhelix.com)
ARID1B appearance is normally low in PDAC tumors (Desk 2), as well as the gene is normally proposed to truly have a tumor-suppressive function. (morainetownshipdems.org)
Amplification of the ErbB-2 gene and overexpression of its product has been detected in almost 40% of primary human breast tumors, which correlates with poor prognosis in node positive breast cancer. (activemotif.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)

Treatment with cetuximab-IONPs resulted in a significant antitumor effect that was greater than with cetuximab alone due to more efficient, CD133-independent cellular targeting and uptake, EGFR signaling alterations, EGFR internalization, and apoptosis induction in EGFR-expressing GSCs and neurospheres. (oncotarget.com)
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
Using a blood sample, FoundationOne Liquid CDx analyzes over 300 cancer-related genes for alterations. (foundationmedicine.com)
In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)

Alternative by-pass mechanisms involving MET amplification or activation of the MAPK pathway may also play a role in the development of resistance to third-generation EGFR inhibitors 14 , 15 , 17 . (nature.com)
Following this, the differentially expressed genes (DEGs) were included in Gene Ontology enrichment, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway, protein‑protein interaction network and survival analyses. (cancerindex.org)
Network and pathway-based approaches have become one of the most promising methods to understand drivers due to their ability to model gene-gene interactions by aggregating small effect sizes from individual genes. (biomedcentral.com)
Through profiling DNA methylome of individual tumor foci, we found that promoter methylation status of genes involved in detection of chemical stimulus, immune response, and Hippo/YAP1 pathway was significantly changed in mGBM. (thno.org)
Mechanistically, knockdown resulted in decreased activation from the JAK2/STAT3 pathway, inhibition of STAT3 phosphorylation and decreased transcription of STAT3 focus on genes [85]. (morainetownshipdems.org)
qBiomarker Somatic Mutation PCR Arrays are translational research tools that allow rapid and accurate profiling of the somatic mutation status for important genes related to a biological pathway or disease. (qiagen.com)
Many microtubules and microcavities were engraved on silicon wafers or quartz glass by integrated fluid pathway technology, and the flow of solution was controlled by different control valves to realize liquid separation, mixing and PCR amplification of biological samples, so as to achieve absolute quantification. (seesunid.com)

The test is intended to be used as an aid in selecting patients with NSCLC for whom Tarceva® (erlotinib), an EGFR tyrosine kinase inhibitor (TKI), is indicated. (pdffox.com)
EGFRvIII, a common oncogenic receptor tyrosine kinase mutant protein in glioblastoma, potentiates tumor malignancy and is an emerging tumor-specific immunotarget, underlining the need for its more accessible and quantitative detection. (touro.edu)
Systematic inhibitor screening and in-depth kinetic profiling validate these findings and show that second-generation EGFR inhibitors retain kinase affinity and overcome EGFR G724S -mediated resistance. (nature.com)
Genetic profiling of stage IV lung adenocarcinomas is state of the art to identify patients who are eligible to tyrosine kinase inhibitors targeting EGFR, and fused genes involving ALK , ROS and RET . (biomedcentral.com)
The summary states that the MET gene encodes a receptor tyrosine kinase that binds hepatocyte growth factor (HGF), which in turn activates downstream pathways involved in cell survival, proliferation, invasion, migration, and angiogenesis (4). (goldenhelix.com)
The ErbB-2 proto-oncogene, also called Neu, EGFR-2 or HER-2, is a member of the transmembrane receptor tyrosine kinase family, which also includes EGF receptor and EGFR-3 (HER-3 or ErbB-3). (activemotif.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)

The current panel-track supplement was submitted to expand the intended use and indication for use of the cobas® EGFR Mutation Test v2 for the detection of the exon 20 (T790M) substitution mutation in NSCLC patients for whom Tagrisso® (osimertinib) treatment is indicated. (pdffox.com)
In a subgroup of these patients we identified an association between selection of EGFR T790M -negative but EGFR G724S -positive subclones and osimertinib resistance. (nature.com)
Third-generation EGFR inhibitors such as osimertinib have been designed to overcome acquired resistance induced by the EGFR T790M gatekeeper mutation 10 . (nature.com)
Clinical results show that patients treated with osimertinib respond in up to 71% in the background of an acquired EGFR T790M mutation 11 , 12 . (nature.com)
Patient P1 (UICC stage IIIA, 59 years old, female) received osimertinib within the AURA trial (NCT01802632) after progression on erlotinib and the detection of an acquired EGFR T790M mutation (T1) (Fig. 1a ). (nature.com)

The degree of HER2 overexpression and amplification varies with the location of the carcinoma, with higher expression in the gastroesophageal and proximal parts compared to the distal parts of the stomach. (wjgnet.com)
Further, HER2 overexpression and amplification also seems to be related to the Lauren histological classification, with higher levels found in the intestinal phenotype compared to the diffuse and mixed types. (wjgnet.com)
The prognostic properties of HER2 overexpression and amplification are still under debate, but a large number of studies seem to indicate that HER2 is a negative prognostic factor. (wjgnet.com)
001). EGFR overexpression or high gene copy numbers had no significant influence on prognosis. (nih.gov)
EGFR overexpression is frequent in NSCLC, is most prominent in SCC, and correlates with increased gene copy number per cell. (nih.gov)
In addition, it has been made clear that overexpression of this gene has been associated with an increased resistance of leishmania to miltefosine [ 15 ]. (biomedcentral.com)

It unlocks novel dimensions by uncovering elusive cell populations and tumor heterogeneities for early detection, unraveling mechanisms of treatment resistance, tailoring therapies to individuals, and illuminating metastasis and cachexia pathways, thereby opening fresh avenues for preventive strategies. (frontiersin.org)
Real-time PCR is rapidly replacing traditional microbial detection methods as it not only detects infection but also the drug resistance status of the pathogen, which provides an immediate treatment plan with effective drugs, reduces the generation of drug-resistant pathogens, and facilitates the recovery of patients. (medicalbuyer.co.in)
According to the findings, it seems that mutation in MDR1 gene could be responsible for drug resistance to pentavalent antimonial compounds. (biomedcentral.com)

We also performed an MLPA HER2 assay that evaluates 22 genes on chromosome 17. (jcancer.org)
MLPA identified HER2 amplification in 7 polyCEP17 cases compared to 2 identified by ISH. (jcancer.org)
Current ISH criteria may under-diagnose HER2 amplification in polyCEP17 cases due to flawed assumptions about polysomy. (jcancer.org)
MLPA can detect HER2 amplification missed by IHC and ISH, and thus may be an effective ancillary technique in evaluating HER2 status. (jcancer.org)
Additionally, a separate subset of patients was tested for HER2 gene mutation. (biomedcentral.com)
HER2 is a glycoprotein encoded by the HER2 gene, a proto-oncogene found on the long arm of chromosome 17. (biomedcentral.com)

Surgeon and medical oncologist peer network effects on the uptake of the 21-gene breast cancer recurrence score assay. (cdc.gov)
Whereas PMA-LAMP assay desires optimization, PMA-PCR reveals promise for keep/viable S. Enteritidis detection. (q-es.com)
On this analysis, an insulated isothermal PCR assay for the detection of Salmonella and Shigella on a field-deployable PCR system was developed. (q-es.com)
Based totally on our outcomes, we contemplate that the assay developed herein may serve in its place method for preliminary screening and provide a helpful platform for the on-site detection of Salmonella and Shigella , significantly in resource-limited and rising nations. (q-es.com)
According to Mellinghoff, the researchers used MSKCC's MSK-IMPACT next-generation sequencing assay to analyze samples for genes relevant to glioma. (genomeweb.com)

Anti-EGFR therapies are used in the clinic to treat different types of cancers, including non-small cell lung cancer (NSCLC) and colorectal cancer (CCR). (fapesp.br)
In our study , we extended this ALK+ NSCLC cohort to multiple longitudinal samples and asked whether ctDNA detection using tNGS and sWGS could precede disease progression as identified by computed tomography (CT) imaging. (springernature.com)
This blog will show how VSClinical's Cancer Add-on can be used to report on a copy number amplification associated with non-small cell lung cancer (NSCLC) using the CancerKB catalog and other available resources within the platform. (goldenhelix.com)

Ultimately, the ultimate proof of the utility of ctDNA analysis for early detection of disease progression will be the demonstration of a patient survival benefit in prospective clinical studies. (springernature.com)
Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
In melanoma, i have focused in acral lentiginous melanoma for which we described KIT mutation and protein expression status in a large series of cases and described TERT amplification in progression to metastasis. (mdanderson.org)

The top 14 hub genes were subsequently confirmed by reverse transcription‑quantitative polymerase chain reaction in ACC and adrenocortical adenoma samples. (cancerindex.org)
Among of the methods developed for efficient detection of such SNP, polymerase chain reaction (PCR) methods are widely used worldwide for its cost and viable advantages. (researchsquare.com)
Techniques, such as high-throughput sequencing, polymerase chain reaction, gene chip technology, and isothermal amplification reaction, are widely employed as primary diagnostic methods. (medicalbuyer.co.in)

To judge the efficacy of pattern pooling in comparison with the person evaluation for the prognosis of COVID-19, by utilizing totally different business platforms for nucleic acid extraction and amplification. (q-es.com)
Nucleic acid amplification tests, in particular, have emerged as a preferred approach for TB detection. (cdc.gov)
We herein report on the development of a nucleic acid platform designed to provide fast and portable detection, and demonstrated the utility by detecting MTB DNA from mechanically processed TB patient sputum samples. (cdc.gov)

Most other sources agree and report an almost equal performance on gene amplification assays for FISH and CISH. (wikipedia.org)
Comparable detection of in a single day cultured S. Enteritidis was obtained by PMA-PCR, PCR, and RT-PCR, though 1 to 2 log a lot much less delicate than cultural assays. (q-es.com)
PMA-PCR and RT-PCR confirmed comparable detection of sublethal heat-treated cells to cultural assays, whereas PMA-LAMP confirmed 1 to 2 log a lot much less detection. (q-es.com)
Our outcomes advocate that PMA-PCR and PMA-LAMP assays often usually are not acceptable for selective viable cell detection after UV treatment. (q-es.com)

Single-cell sequencing is a high-throughput technique that enables detection of genomic, transcriptomic, and epigenomic information at the individual cell level, offering significant advantages in detecting cellular heterogeneity, precise cell classification, and identifying rare subpopulations. (frontiersin.org)

We demonstrate that EGFR G724S limits the activity of third-generation EGFR inhibitors both in vitro and in vivo. (nature.com)
Our data provide a mechanistic basis for the osimertinib-induced selection of EGFR G724S -mutant clones and a rationale to treat these patients with clinically approved second-generation EGFR inhibitors. (nature.com)
Within our LADC re-biopsy program we performed targeted sequencing of lesions that progressed under treatment with third-generation EGFR inhibitors. (nature.com)
It will be important to evaluate EGFR gene and EGFR protein status and signal protein expression to properly interpret future clinical trials using EGFR inhibitors. (nih.gov)

The genes in the second group are called tumor suppressors. (cancerquest.org)
Analysis on genetic data confirmed common features of GBM, including gain of chr.7 and loss of chr.10, loss of critical tumor suppressors, high frequency of PDGFA and EGFR amplification. (thno.org)
These genes act as tumour suppressors blocking the development of cancer in normal situations. (safembryo.com)

Risperidone-induced weight gain is associated with a number of factors, including gene polymorphisms ( 12 - 14 ), exercise ( 15 - 17 ), peripheral molecules ( 18 ), and hyperphagia caused by regulating the expression of melanocortin-4 receptor (MC4R), neuropeptide Y (NPY), and agouti-related peptide (AgRP) ( 19 - 21 ). (frontiersin.org)
It is also related to increased adiponectin (APN) expression associated with adipocyte differentiation, as well as the expression of adipogenic genes such as peroxisome proliferator-activated receptor ( PPAR) ( 22 , 23 ). (frontiersin.org)

This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. (cancerindex.org)
The identified DEGs included 20 downregulated genes and 51 upregulated genes, which were highly associated with the cell cycle, organelle fission, chromosome segregation, cell division and spindle stability. (cancerindex.org)
MLPA did not show any cases of complete chromosome 17 duplication and peri-centromeric amplification can explain most cases of ISH polyCEP17. (jcancer.org)
Gene and chromosome 7 copy numbers were identified by fluorescent in situ hybridization (FISH). (nih.gov)
The prevalent FISH patterns were balanced disomy (40%) and trisomy (38%) for EGFR gene and chromosome 7 (40%), whereas balanced polysomy was seen in 13% and gene amplification was seen in 9% of the patients. (nih.gov)

Analysis of large deletions and duplications in the BRCA1, BRCA2 and EPCAM genes by MLPA (Multiplex Ligation-dependent Probe Amplification). (safembryo.com)

Multiplex ligation-dependent probe amplification (MLPA) allows simultaneous quantification of multiple loci and can distinguish between true polysomy and centromeric amplification. (jcancer.org)
Luminex has led the field of end-point multiplex amplification and detection technologies with its many FDA-cleared products. (clpmag.com)

These include a restricted range of detectable pathogens, low sensitivity, and prolonged detection cycles, which pose challenges in identifying infections caused by rare or novel pathogens. (medicalbuyer.co.in)

With respect to EGFR and PDGFRA amplification, there was near-complete agreement between next-generation sequencing and in situ hybridization. (touro.edu)

Chromogenic in situ hybridization (CISH) is a cytogenetic technique that combines the chromogenic signal detection method of immunohistochemistry (IHC) techniques with in situ hybridization. (wikipedia.org)
It was developed around the year 2000 as an alternative to fluorescence in situ hybridization (FISH) for detection of HER-2/neu oncogene amplification. (wikipedia.org)
Use of the Twelve-Gene Recurrence Score for Ductal Carcinoma in Situ and Its Influence on Receipt of Adjuvant Radiation and Hormonal Therapy. (cdc.gov)

In the case of afatinib this profile translates into a robust reduction of colony formation and tumor growth of EGFR G724S -driven cells. (nature.com)
This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)

Additionally, copy number amplifications in oncogenes such as TERT and MET have been indicated in causing lung adenocarcinoma (3). (goldenhelix.com)

Since the MET amplification is a common somatic mutation, the Golden Helix CancerKB catalog provided a premade interpretation for the MET gene summary (Figure 2). (goldenhelix.com)

The targeting effects of IONPs conjugated to the EGFR inhibitor, cetuximab (cetuximab-IONPs), were determined with EGFR- and EGFRvIII-expressing human GBM neurospheres and GSCs. (oncotarget.com)

Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma. (cancerindex.org)

Disclosure of familial implications of pathogenic variants in breast-cancer genes to patients: Opportunity for prompting family communication. (cdc.gov)
NGS sequencing with paired-end reads of the genes included on the panel, which allows the detection of any pathogenic mutation or Variant of Uncertain Significance (VUS). (safembryo.com)

Multiple transcript variants encoding different isoforms have been found for this gene. (healthcare-biotech.com)
Sequence-based analysis enabled by Life Technologies' 3500 Dx system coupled with SeCore kits is the only available technique that identifies more than 5,500 gene variants at the nucleotide level. (clpmag.com)
Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)

KIT gene encodes the human homolog of the proto-oncogene c-kit. (healthcare-biotech.com)

We used normalized next-generation sequencing data from 117 brain and 371 reference clinical tumor samples to detect focal gene amplifications across the commercial Ion AmpliSeq Cancer Hotspot Panel version 2 and infer EGFRvIII status based on relative coverage dropout of the gene's truncated region within EGFR. (touro.edu)

Here, we characterized the role of the acquired EGFR G724S mutation that was diagnosed in osimertinib-resistant lesions of four individual EGFR 19del -mutant LADC patients. (nature.com)
Furthermore, these three genes predicted overall survival and recurrence‑free survival in patients with ACC from the TCGA cohort. (cancerindex.org)
Inhibition of the oncogenic fusion-gene EML4-ALK is a current first-line approach for patients with stage IV non-small cell lung cancer. (biomedcentral.com)
While FISH was established as the gold standard for identifying these patients, there is accumulating evidence that other methods of detection, i.e., immunohistochemistry and next-generation sequencing (NGS), exist that may be equally successful. (biomedcentral.com)
Consequently, the FDA approved method for the detection of ALK rearrangements is FISH while the EMA allows use of any method in Europe that correctly identifies patients whose tumor harbors ALK fusions. (biomedcentral.com)
RNA splicing and aggregate gene expression differences in lung squamous cell carcinoma between patients of West African and European ancestry. (cdc.gov)
By comparing the coverage profile stored in the patients BAM file to a set of references, the VS-CNV caller identified an exon 14 amplification in the MET gene that was without sample and event quality flags. (goldenhelix.com)

In addition, the MLPA method is used to identify large genetic rearrangements (deficiencies, doubling) that deactivate the BRCA1 and BRCA2 genes. (safembryo.com)

Cases where CEP17 exceeds 3 are classified as polysomic, but it's unknown if they represent true polysomy or centromeric amplification. (jcancer.org)

A diagram showing the major cancer genes for some cancers. (cancerquest.org)
Also integrated into the Cancer Add-On is our Cancer Knowledge Base (CancerKB), which provides comprehensive interpretations for many common cancer genes and biomarkers for specific tumor types. (goldenhelix.com)

A key question in cancer genomics is the identification of driver genes. (biomedcentral.com)
There are several recent methods that use additional information to help predict driver genes and driver pathways. (biomedcentral.com)

Other methods such as PARADIGM-Shift are designed to determine drivers in small pathways and often require detailed previous knowledge of specific pathways and focus genes to operate effectively. (biomedcentral.com)
The potential signaling pathways for RIL were identified and experimentally validated using gene ontology (GO) enrichment and Kyoto encyclopedia of genes and genomes (KEGG) analysis. (frontiersin.org)

0.7) by nomogram model may suggest a high possibility of EGFR mutation, if tissue is limited, NGS-based ctDNA with liquid biopsy could be implemented effectively. (elis.sk)

Additionally, CancerKB highlights that abnormal activation of MET, via gene amplification, is common in non-small cell lung cancer and that there are potential therapeutic targets (5). (goldenhelix.com)

Speedy and delicate detection of keep/infectious foodborne pathogens is urgently needed with a function to forestall outbreaks and meals remembers. (q-es.com)
These tests are useful in detection of difficult-to-culture pathogens such as norovirus (causative agent for gastroenteritis), and mycobacterium tuberculosis (TB) in standard conventional diagnostics testing. (clpmag.com)

Full gene screening of BRCA1 and BRCA2. (safembryo.com)
Integrated gene testing for BRCA1 and BRCA2 & 16 additional genes. (safembryo.com)

No significant difference was observed in the expressions of ER, PR, HER-2, EGFR, E-cadherin, N-cadherin and the recurrence rate between two groups. (wjon.org)

For example, compared to FISH, CISH has been shown to have a sensitivity of 97.5% and a specificity of 94% for detection of HER-2/neu gene amplification. (wikipedia.org)
However, sometimes CISH shows lower sensitivity for low level amplifications. (wikipedia.org)
However, both methods suffer from low sensitivity and specificity, resulting in challenges for precise early detection ( 4 - 6 ). (frontiersin.org)
bacteria culture is the gold standard in TB detection for its highest sensitivity, but requires weeks to obtain results. (cdc.gov)

What does this gene/protein do? (cancerindex.org)
Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.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)

We performed systematic biochemical, cellular, and structural analyses to determine the functional relevance of this mutation in the context of targeted EGFR inhibition. (nature.com)

Anatomy6

Organisms3

Diseases14

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Phenomena and Processes24

Disciplines and Occupations1

Information Science2

Health Care5

Mutations49

Epidermal9

KRAS4

TP535

Anti-EGFR therapy2

Molecular11

Tumors5

Alterations6

Pathway7

Kinase7

T790M5

Overexpression6

Resistance3

HER26

Assay5

NSCLC3

Progression3

Polymerase chain re3

Nucleic acid3

Assays4

Genomic1

Inhibitors4

Suppressors3

Receptor2

Chromosome5

Deletions1

Multiplex2

Detectable1

PDGFRA1

Situ3

Tumor growth2

TERT1

Somatic mutation1

Inhibitor1

Prognostic1

Pathogenic2

Variants3

Encodes the human1

Clinical1

Patients7

MLPA1

Polysomy1

Cancer genes2

Driver genes2

Pathways2

CtDNA1

Therapeutic1

Pathogens2

BRCA12

Recurrence1

Sensitivity4

Protein7

Inhibition1