Cancers gene fusion. Medical search. Frequent questions

The Thyroid Cancer Mutation Panel provides reagents for detection of point mutations in BRAF and RAS genes, as well as RET/PTC1,3 and PAX8/PPARg fusion gene variants. (molgendia.pl)
one run is performed for detection of point mutations in BRAF and RAS genes using genomic DNA as the input, and the other is performed for detection of the fusion genes using total cellular RNA. (molgendia.pl)
The authors pair single-cell sequencing technology with the LoopSeq synthetic long-read method to examine samples of hepatocellular carcinoma and benign liver, with the goal of identifying mutations and fusion transcripts specific to cancer cells. (elifesciences.org)
While protein expression is dictated by the level of gene expression, the structure and function of the protein is largely determined by the isoforms of the mRNA of a given gene and are impacted by mutations or other structural alterations to the amino acids ( Faustino and Cooper, 2003 ). (elifesciences.org)
Genentech), a kinase inhibitor of wild-type RET and oncogenic RET fusions and mutations, for the treatment of adults with metastatic non-small cell lung cancer (NSCLC) and RET fusion-positive gene mutation, as detected by an FDA-approved test. (oncpracticemanagement.com)
What are gene mutations? (webmd.com)
Why do you get gene mutations? (webmd.com)
In lung cancer, mutations usually aren't inherited. (webmd.com)
Things outside your body, like breathing in tobacco smoke, lead to gene mutations. (webmd.com)
In a small portion of lung cancer cases, these acquired gene mutations are just random things that happen. (webmd.com)
How do gene mutations cause cancer? (webmd.com)
Researchers are working all the time to look for new kinds of gene mutations. (webmd.com)
Here's how some common mutations affect the way your cancer grows, and who's likely to get them. (webmd.com)
Your doctor may also mention mutations on the AKT, PTEN, or mTOR genes, which are linked to PIK3CA. (webmd.com)
ALK fusion and its association with other driver gene mutations in Finnish non-small cell lung cancer patients. (genomeweb.com)
For certain cancers with well-defined mutations, such as lung cancer, genomics has been very successful in identifying biomarkers and specifying their use for therapeutic purposes. (genengnews.com)
Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
Mutations in this gene are associated with type 1 elliptocytosis (EL1). (cancerindex.org)
The gene view histogram is a graphical view of mutations across RPS17. (sanger.ac.uk)
These mutations are displayed at the amino acid level across the full length of the gene by default. (sanger.ac.uk)
In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes. (sanger.ac.uk)
Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id. (sanger.ac.uk)
At least 16 mutations in the ALK gene have been identified in some people with neuroblastoma, a type of cancerous tumor composed of immature nerve cells (neuroblasts). (medlineplus.gov)
Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genes-those that control cell proliferation or differentiation-allows cells to grow and divide uncontrollably to form a tumor. (medlineplus.gov)
Less commonly, gene mutations that increase the risk of developing cancer can be inherited from a parent. (medlineplus.gov)
Somatic mutations in the ALK gene occur during the development of some cases of sporadic neuroblastoma, and inherited mutations in the ALK gene increase the risk of developing familial neuroblastoma. (medlineplus.gov)
Mutations in the ALK gene change single protein building blocks (amino acids) in ALK receptor tyrosine kinase. (medlineplus.gov)
Potential genetic factors in prostatic adenocarcinoma include gene mutations or polymorphisms in androgen, the androgen receptor (AR), and steroid 5-alpha reductase type II (SRD5A2), an enzyme responsible for converting testosterone to dihydrotestosterone (DHT). (medscape.com)
Association of Tumor Mutational Burden With DNA Repair Mutations and Response to Anti-PD-1/PD-L1 Therapy in Non-Small-Cell Lung Cancer. (cdc.gov)

The Food and Drug Administration approved Vitrakvi in November 2018 to treat adults and children with solid tumors of any type originating anywhere in the body if the patients have fusions in one of three NTRK (neurotrophic receptor tyrosine kinase) genes. (curetoday.com)
It was the first drug on the market to target NTRK fusions and the second FDA approval based on the biological characteristics of tumors rather than their location in the body. (curetoday.com)
NTRK fusions are rare: A recent sampling of more than 13,000 tumors found the abnormality in just 0.31% of adult cancers and 0.34% of pediatric tumors. (curetoday.com)
Bayer) in solid tumors with NTRK gene fusion. (pharmacytimes.com)
Bayer) highlight its long-term efficacy and safety profile in both adult and pediatric patients with solid tumors that have a NTRK gene fusion without a known acquired resistance mutation, are metastatic, or where surgical resection is likely to result in severe morbidity, and who have no satisfactory alternative treatments or have progressed following treatment. (pharmacytimes.com)
The results emphasize the importance of wider adoption of next-generation sequencing testing for identifying patients with solid tumors harboring NTRK gene fusions, including lung cancer. (pharmacytimes.com)
The advancement of cancer research depends on the ability to accurately detect the molecular changes driving the initiation, progression, and evolution of tumors. (pacb.com)
In particular, gene fusions can lead to transcriptional dysregulation that drive the development of tumors. (pacb.com)
Another study found gene fusions have also been noted in roughly one third of soft tissue tumors including Ewing's sarcoma - a form of cancer that, while rare, disproportionally affects children and adolescents. (pacb.com)
This fusion involves the androgen-regulated gene TMPRSS2 and so far three members of the ETS family of transcription factors already described as rearranged in the Ewing's family of tumors. (uni-luebeck.de)
By analogy, fusion status in prostate cancer may determine clinical outcome and secondary genetic alterations as witnessed in Ewing's tumors. (uni-luebeck.de)
Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)
He is interested in studying GU solid tumors, particularly prostate cancer. (cancer.gov)
One of the challenges associated with cancer treatment is the cellular heterogeneity that has been increasingly described in tumors and is critical in shaping tumor behavior. (genengnews.com)
Gene fusions are often major cancer driving events, especially in pediatric cancers and liquid tumors. (mdanderson.org)

As lung cancer claims flood into asbestos litigation, one wonders if more attention will be paid to genomics by insurers, former sellers of ACM, trustees of asbestos trusts, and futures representatives. (globaltort.com)
The information is freely available ( https://mitelmandatabase.isb-cgc.org) as an integrated component of the Cancer Genomics Cloud (CGC) - a flexible and powerful platform for cancer genomics research initiated and sponsored by the US National Cancer Institute (NCI). (lu.se)
We developed a fast way of profiling tens of thousands of cells, where for each cell, we capture gene expression in an unbiased way," says Benjamin J. Hindson, Ph.D., CSO, president, and cofounder of 10x Genomics. (genengnews.com)
As the integration of NGS in the study and treatment of cancer continues to mature, we believe that the field of cancer genomics will need to move toward more complete 100% genome sequencing. (frontiersin.org)
Non-coding regions represent an important frontier in cancer genomics. (frontiersin.org)
First, this article summarizes the history of massively parallel next-generation sequencing (NGS) in the context of cancer genomics and reviews recent research and clinical applications. (frontiersin.org)

Gene fusions are chimeric genes that combine at least two parental genes. (biomedcentral.com)
Recurrent and mutually exclusive chimeric gene fusions associated with pediatric AMKL are found in 60%-70% of cases and include RBM15-MKL1, CBFA2T3-GLIS2, NUP98-KDM5A and MLL rearrangements. (bvsalud.org)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)

The database is available on-line (https://mitelmandatabase.isb-cgc.org) for searches related to cases cytogenetics, gene fusions, clinical associations, structural or numerical recurrent aberrations and references. (wikipedia.org)
Broadly, fusions can result in partner and collateral dependencies that have biological and clinical relevance across cancer types. (nih.gov)
SIGNIFICANCE: This study provides insights into how fusions contribute to fitness in different cancer contexts beyond partner-gene activation events, identifying partner and collateral dependencies that may have direct implications for clinical care. (nih.gov)
They discovered that her tumor had a rare mutation called NTRK gene fusion - and told her about a clinical trial opening in Denver for a drug targeting that abnormality. (curetoday.com)
The datasets included transcriptome-wide expression and matched clinical follow-up data to detect and characterize gene fusions in PCa. (biomedcentral.com)
The Clinical Associations Searcher searches studies pertaining to clinical associations of cytogenetic aberrations and/or gene rearrangements. (isb-cgc.org)
The very first clinical case profiled at my company, Foundation Medicine, was a non-smoking male in his early 40s, diagnosed with lung cancer. (globaltort.com)
Information exchange across the global cancer community is critical for success in the fight against the disease, allowing physicians to easily access, share and analyse genomic and clinical data to help inform treatment decisions. (globaltort.com)
Emerging data suggest that gene fusion PCa demonstrates a distinct clinical course and thus support its use as a diagnostic test and prognostic biomarker. (uni-luebeck.de)
The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)
Here we propose comprehensive response criteria based on the heterogenous clinical presentations of patients with MLN with eosinophilia and tyrosine kinase gene fusions. (nature.com)
Although multiple molecular alterations have been detected in prostate cancer, a detailed understanding of gene fusion in prostate cancer should help explain the clinical and biologic diversity in addition to providing a rationale for a molecular sub-classification of the disease. (uni-luebeck.de)
Multicenter clinical trials are critically required to determine the frequency of this fusion in AMKL patients and explore innovative treatment strategies for a disease still plagued with poor outcomes. (bvsalud.org)
Pralsetinib was previously granted accelerated approval for the NSCLC indication on September 4, 2020, based on initial objective response rate (ORR) and duration of response (DOR) in 114 patients with NSCLC and RET fusion-positive disease who were enrolled in the ARROW study, a multicenter, open-label, multicohort clinical trial. (oncpracticemanagement.com)
As prostate cancer remains a major health problem in the world, discovery and addition of new biomarkers and genetic alterations enhances the accuracy of prostate cancer clinicopathologic parameters (PSA, Gleason grade, stage) for the decision-making process toward optimal patient clinical management. (cancer.gov)
Transcriptome analysis reveals overlap in fusion genes in a phase I clinical cohort of TNBC and HGSOC patients treated with buparlisib and olaparib. (broadinstitute.org)
RNA-seq was utilized to identify fusion genes in a cohort of 18 TNBC and HGSOC patients treated with the PI3K inhibitor buparlisib and the PARP inhibitor olaparib in a phase I clinical trial (NCT01623349). (broadinstitute.org)
From a clinical perspective, FOXP1 fusions were associated with a favorable overall survival. (broadinstitute.org)
Clinical activity of FOLFIRI plus cetuximab according to extended gene mutation status by next generation sequencing: findings from the CAPRI-GOIM trial. (genomeweb.com)
As part of our mission to eliminate cancer, MD Anderson researchers conduct hundreds of clinical trials to test new treatments for both common and rare cancers. (mdanderson.org)
It outlines current approaches employed at the preclinical and clinical trial interface towards reversing these processes in order to improve response to immunotherapy and survival outcomes for patients with cancer. (portlandpress.com)
We hope to contribute to the advance of translational cancer research and the implementation of precision medicine in the field of prostate cancer by providing a unique insight into the protein level alterations associated with tumor tissue in clinical samples," adds Flores-Morales. (sciencedaily.com)
Conclusion Breast cancer biomarker analysis with STRAT4 has the potential to reduce the required human and capital resources in subSaharan African laboratories, leading to improved treatment selection and better clinical outcomes. (bvsalud.org)
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers. (cdc.gov)
Clinical Translatability of 'Identified' Circulating miRNAs for Diagnosing Breast Cancer: Overview and Update. (cdc.gov)

For example, one study found up to 50% of prostate cancers contain recurrent gene fusions. (pacb.com)

Gene fusions frequently result from rearrangements in cancer genomes. (nih.gov)
Although regulatory element rearrangements and copy number alterations resulting from these structural variants are known to lead to transcriptional dysregulation across cancers, the extent to which these events result in functional dependencies with an impact on cancer cell survival is variable. (nih.gov)
However, none of the prognostic models incorporates parameters reflecting the status of chromosomal rearrangements and transcriptional disorganization in a patient sample, even though gene fusions are known to drive PCa development and progression [ 8 ]. (biomedcentral.com)
In the recent fifth edition of the World Health Organization classification, similar to the recent update to the International Consensus Classification, the category was renamed to "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" and both classifications added novel subtypes with new JAK2 rearrangements (e.g. (nature.com)
The recent discovery and subsequent characterization of recurrent gene rearrangements of ETS genes - most frequently ERG - in the majority of prostate cancers is a milestone in translational prostate cancer research. (uni-luebeck.de)
This review describes the path from the identification of common ETS gene rearrangements in prostate cancer to possible applications in the treatment of patients, on to the potential scientific implications arising from their discovery. (uni-luebeck.de)
Die Entdeckung und Charakterisierung von rekurrierenden Rearrangements der ETS-Gene - wobei es sich am h{\"a}ufigsten um ein Rearrangement des ERG-Gens handelt - war ein Meilenstein der translationalen Prostatakarzinomforschung. (uni-luebeck.de)
In addition, another 4% of AMKL harbor NUP98 rearrangements (NUP98r), with yet undetermined fusion partners. (bvsalud.org)
Novel PRKD gene rearrangements and variant fusions in cribriform adenocarcinoma of salivary gland origin. (genomeweb.com)
Future work should hopefully clarify the role of ERG gene rearrangements in the pathogenesis of prostatic SCC, as there is a potential role here for targeted therapy. (karger.com)
In particular, about one third of all sarcomas presents pathognomonic chromosome rearrangements (translocations, deletions, insertions) that result in fusion genes and corresponding expression of fusion transcripts ( 4 ). (frontiersin.org)
Rearrangements of genetic material involving the ALK gene on chromosome 2 increase the risk of developing several other types of cancer. (medlineplus.gov)
An exciting finding is that in approximately half of the cases, there are recurrent chromosomal rearrangements resulting in the fusion of transmembrane protease serine 2 (TMPRSS2 ) and a member of the ETS family transcription factors , most commonly ERG . (medscape.com)

A Goldmine of Cytogenetic Data Linked to Cancer" (Center for Biomedical Informatics, National Cancer Institute 2023) "Taking in consideration all the progress made in cancer cytogenetics, it would have been much slower without the Mitelman database. (wikipedia.org)
The database was last updated on August 3, 2023, with a total number of cases=76,835, a total number of unique gene fusions=33,710 and a total number of genes involved=14,059. (wikipedia.org)
On August 9, 2023, the U.S. Food and Drug Administration (FDA) granted regular approval to pralsetinib (Gavreto ® ) for adult patients with metastatic, rearranged during transfection (RET) fusion-positive non-small cell lung cancer (NSCLC) as detected by an FDA-approved test. (ons.org)

Atlas of Genetics and Cytogenetics in Oncology and Haematology COSMIC cancer database Ensembl genome database project Entrez Gene GenBank Gene Wiki HUGO Gene Nomenclature Committee International Agency for Research on Cancer International Classification of Diseases for Oncology Online Mendelian Inheritance in Man UCSC Genome Browser Mitelman, Felix (1983). (wikipedia.org)
But the limitation in read length means that many fusions can be missed, especially in repeat-rich regions of the genome as found in this paper. (pacb.com)
Genome browser shot of TFE3-ASPSCR1 fusion reads annotated by pbfusion. (pacb.com)
how the DNA is organized into the nucleus is critically important for coordination of gene expression and genome function. (arimagenomics.com)
Structure: the 3D structure of the Genome can be used to identify structural variants such as gene fusions as potential drivers of disease. (arimagenomics.com)
Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer. (genomeweb.com)
Detects genome wide CNVs and fusions, including fusion partners. (mdanderson.org)
During this period, tremendous success has been achieved in the fields of decoding of human genome, technological advancement of new era of human genome applications, toward personalized genomes and discovery of rare variants, leveraging genome sequencing to impact on cancer researches and mammalian evolution and population structure. (springer.com)
While whole exome sequencing (WES) remains popular and effective as a method of genetically profiling different cancers, advances in sequencing technology has enabled an increasing number of whole-genome based studies. (frontiersin.org)
The first cancer exomes were sequenced soon after the completion of the Human Genome Project in 2001. (frontiersin.org)
We reviewed whole genome (WGS) and transcriptomic (RNA-Seq) data from advanced GI and thoracic cancers in the Personalized OncoGenomics trial (NCT02155621) to evaluate HRD sc. (researchgate.net)
The Personalized OncoGenomics (POG) program at BC Cancer performs whole genome and transcriptome analysis (WGTA) to identify specific alterations in an individual's cancer tha. (researchgate.net)
Whole-genome and transcriptome (WGS and RNA-seq, respectively) sequencing can discover novel clinically relevant fusions. (researchgate.net)
International Cancer Genome Consortium. (cancerindex.org)

The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, genes, and cancer. (wikipedia.org)
Unlike the gene fusions previously found in cancers, which arise when two chromosomes join together in an abnormal way, the new fusion occurs when the genes are being copied into RNA. (eurekalert.org)
Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
Genes Chromosomes Cancer;57(6): 311-319, 2018 06. (bvsalud.org)
We know that in CCS, chromosomes (the structures in your cells that contain all your genes) break apart and are put back together in the wrong way. (cancer.gov)
Doctors will look for this change in chromosomes to confirm that your cancer is CCS. (cancer.gov)
An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)

The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations. (wikipedia.org)

Prostate cancer (PCa) is one of the most prevalent cancers worldwide. (biomedcentral.com)
These novel gene fusions occur in the majority of prostate cancers identified by PSA screening and are the driving mechanism for overexpression of the three members of the ETS transcription factor family, either ERG (21q22.3), ETV1 (7p21.2), or ETV4 (17q21). (uni-luebeck.de)
Considering the high incidence of prostate cancer and the high frequency of this gene fusion, the TMPRSS2-ETS gene fusion is the most common genetic aberration so far described in human malignancies. (uni-luebeck.de)
Also similar to the Philadelphia chromosome in chronic myelogenous leukemia (CML), the gene fusion in prostate cancer has potential as an important candidate for the development of targeted therapy. (uni-luebeck.de)
NEW YORK (April 9, 2009) -- A newly discovered gene fusion is highly expressed in a subset of prostate cancers, according to a study by researchers at Weill Cornell Medical College. (eurekalert.org)
The findings, reported in the April 1 issue of Cancer Research , may lead to more accurate tests for prostate cancer. (eurekalert.org)
The SLC45A3-ELK4 gene fusion is detectable at high levels in the urine of some men at risk for prostate cancer. (eurekalert.org)
If these data are validated, it may be that in the future men could be tested for prostate cancer through a simple urine test. (eurekalert.org)
We think this is going to be a potentially important diagnostic marker in prostate cancer," says senior author Dr. Mark A. Rubin, the Homer T. Hirst Professor of Oncology in Pathology, professor of pathology and laboratory medicine, and vice chair for experimental pathology at Weill Cornell Medical College. (eurekalert.org)
We urgently need biomarkers to detect clinically significant prostate cancer. (eurekalert.org)
Our work has a long-term goal of achieving a test that distinguishes clinically significant prostate cancer from indolent disease that does not require additional treatment. (eurekalert.org)
Dr. Rubin's team is already working with a company to develop a urine test for prostate cancer using a chromosome-based gene fusion called TMPRSS2-ERG that the team discovered previously while working with members of Dr. Arul Chinnaiyan's research group at the University of Michigan. (eurekalert.org)
The two genes, SLC45A3 and ELK4, reside next to one another on the chromosome in normal and prostate cancer cells. (eurekalert.org)
However, when the genes are copied into RNA in the prostate cancer cells, they frequently generate a single RNA message that fuses information from both genes. (eurekalert.org)
Dangerous liaisons in prostate cancer. (uni-luebeck.de)
Prostate cancer is a common and clinically heterogeneous disease. (uni-luebeck.de)
Understanding the biology of prostate cancer is necessary to best determinate the risk of disease progression and develop novel therapeutic approaches to prevent or slow down disease progression. (uni-luebeck.de)
Dive into the research topics of 'Dangerous liaisons in prostate cancer. (uni-luebeck.de)
His research focuses on prostate cancer significant molecular alterations, diagnostic and prognostic biomarkers, and validation of artificial intelligence (AI) and deep learning algorithms for detection and grading of prostate cancer. (cancer.gov)
Furthermore, application of artificial intelligence (AI) and deep learning systems enhances our accuracy and consistency in detecting, targeting and evaluating prostate cancer. (cancer.gov)
Identification of ETS-like transcription factor 4 as a novel androgen receptor target in prostate cancer cells. (nih.gov)
Prostate Cancer 2011;2011:543272. (karger.com)
microRNA-183-3p Inhibits Progression of Human Prostate Cancer by Downregulating High-Mobility Group Nucleosome Binding Domain 5. (cancerindex.org)
Early treatment makes a significant difference for prostate cancer patients who have rising levels of PSA, a cancer indicator, even after radical prostatectomy. (medindia.net)
In a study in The Journal of Nuclear Medicine , the research team demonstrates that PET scans can identify which of these prostate cancer patients would benefit from salvage radiation treatment (SRT). (medindia.net)
The University of Michigan researchers demonstrated the potential of a new PET tracer, Carbon-11 labeled sarcosine (11C-sarcosine), for imaging prostate cancer. (medindia.net)
While further study of larger patient groups with longer follow-up times is needed for this cohort of prostate cancer patients, this study is pivotal in providing evidence for change in practice. (medindia.net)
Genetic variants in patients hold the answer for why advanced prostate cancer is resistant to standard therapy, says study. (medindia.net)
Common genetic fusion TMPRSS2-ERG and interstitial gene retention may help identify patient's risk of spreading prostate cancer. (medindia.net)
A new prognostic biomarker has been identified by researchers: the neuropeptide pro-NPY, which may help determine the risk of dying from prostate cancer. (sciencedaily.com)
This particular type of protein is very specific to prostate cancer cells and could help identify whether newly diagnosed patients require radical prostatectomy surgery or if it is safe to delay surgery. (sciencedaily.com)
Using mass spectrometry, the researchers measured concentration changes in thousands of proteins in both normal and tumour tissue from prostate cancer. (sciencedaily.com)
Among the 9000 proteins identified, one protein, the neuropeptide, pro-NPY, was demonstrated to exhibit high levels in a subgroup of prostate cancer samples. (sciencedaily.com)
Pro-NPY was analyzed in 750 patients with prostate cancer to show that pro-NPY levels correlate with increased risk of prostate cancer death. (sciencedaily.com)
Our research shows that high pro-NPY levels are very specific to prostate cancer and can serve to predict prostate cancer related death among diagnosed patients who have not received surgical treatment," says Professor Amilcar Flores-Morales from the Department of Veterinary Disease Biology, University of Copenhagen. (sciencedaily.com)
Therefore, a better understanding of the protein signaling pathways deregulated in prostate cancer could lead to better preventive and therapeutic strategies for the treatment of this disease. (sciencedaily.com)
Specifically, it is possible that metabolic alterations such as the increase in mitochondria activity could be targeted in the treatment of prostate cancer. (sciencedaily.com)
Small cell carcinoma of the prostate is rare, accounting for less than 1% of all prostate cancers. (medscape.com)
The transitional zone and central zone are not common locations for clinically important prostate cancers. (medscape.com)
Some of the ethnic differences in the incidence of prostate cancer are attributed to diets. (medscape.com)
[ 4 ] For example, Asians have the lowest incidence of prostate cancer, while Asian immigrants who have adopted Western-style diets have an increased incidence of the disease, although still less than that of the white population. (medscape.com)
Other lifestyle factors, such as sexual practices and occupation, are currently not considered important with regard to the development of prostate cancer. (medscape.com)
Some prostate cancers may have a genetic component. (medscape.com)
[ 5 ] The length of a polymorphic CAG repeat region in the first exon of the AR gene appears to explain the racial differences in the incidence of prostate cancer. (medscape.com)
The prostate cancer antigen 3 test has shown superiority and is now widely used. (bvsalud.org)
and enhancer of zeste homolog 2 biomarker may also help improve diagnosis and prognostication of prostate cancer. (bvsalud.org)

The Human Cell Atlas relies, to a great extent, on the use of transcriptome sequencing to profile the gene expression of individual cells. (genengnews.com)

The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). (medlineplus.gov)
This phenomenon, known as gene amplification, results in overexpression of ALK receptor tyrosine kinase. (medlineplus.gov)

Fusion-associated dependencies revealed numerous novel oncogenic drivers and clinically translatable alterations. (nih.gov)

Our gene fusion characterization workflow revealed two potential novel fusions specific for PCa. (biomedcentral.com)
In total, pbfusion discovered 23 known and 99 novel fusions (Figure 1). (pacb.com)

The testing that detected the NTRK gene fusion is what really made the difference between life and death," says survivor Nichol Miller. (curetoday.com)
The testing that detected the NTRK gene fusion is what really made the difference between life and death," says Miller, 45, a mother of three teenagers who now travels throughout the country telling her story at cancer-related conferences. (curetoday.com)
An NTRK fusion occurs when a piece of the chromosome that contains a coding part of an NTRK gene splits off and connects to an unrelated gene on a different chromosome. (curetoday.com)
NTRK fusions appear in some common cancers, such as non-small cell lung, sarcoma and colon, as well as some rare cancers, including secretary breast carcinoma and cellular or mixed congenital mesoblastic nephroma. (curetoday.com)
NTRK fusions in cancer were discovered in the 1980s, and at first, oncology researchers feared they couldn't be targeted with drugs. (curetoday.com)
That's because three NTRK genes play critical roles in the development and survival of nerve cells, raising the possibility that altering the genes could cause dangerous neurological side effects. (curetoday.com)

In this study, we investigated gene fusions in PCa, characterized potential novel candidates, and explored their role as prognostic markers for PCa progression. (biomedcentral.com)
The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)
microRNAs are a class of noncoding RNAs that play important roles in cancer progression. (cancerindex.org)
The effects and mechanisms of microRNA-451a (miR-451a), which hinders the progression of gemcitabine-resistant biliary tract cancers, are under study. (medindia.net)

In the second analysis, investigators examined long-term efficacy and safety of larotrectinib in patients with TRK fusion lung cancer. (pharmacytimes.com)
Among 27 adult patients with TRK fusion lung cancer eligible for assessment, ORR was 74%, including 11% complete responses and 63% partial responses. (pharmacytimes.com)
If you have non-small-cell lung cancer (NSCLC), your disease began with changes to your genes. (webmd.com)
The type of gene mutation you have often depends on what kind of lung cancer you have. (webmd.com)
The cancer begins in squamous cells, the flat cells that line the inside of the lung airways. (webmd.com)
This cancer shows up in any part of the lung. (webmd.com)
Anyone can get a gene mutation that causes lung cancer. (webmd.com)
[ 5 ] An earlier report, in 1956, by Babolini and Blasi, described the same clinicopathological entity using the nomenclature, "The pleural form of primary cancer of the lung. (medscape.com)
Researchers found a pathway linked to allergies that, when blocked, triggers antitumor immunity in lung cancer mouse models. (medindia.net)
Does Family History Heighten Lung Cancer Risk? (medindia.net)
Complications and Economic Burden Associated With Obtaining Tissue for Diagnosis and Molecular Analysis in Patients With Non-Small-Cell Lung Cancer in the United States. (cdc.gov)
Cost Effectiveness of Multigene Panel Sequencing for Patients With Advanced Non-Small-Cell Lung Cancer. (cdc.gov)
Bioinformatic Methods and Bridging of Assay Results for Reliable Tumor Mutational Burden Assessment in Non-Small-Cell Lung Cancer. (cdc.gov)

While cancers are still treated based on where they are found in the body, we now know that they are more accurately categorized by the underlying defects in the DNA (or genomic alterations) that drive cancer growth, which can be targeted to personalize a patient's treatment, often regardless of the type of tumour. (globaltort.com)
Liquid biopsy: The genomic alterations of solid cancers can be identified by evaluating circulating tumor DNA (ctDNA) in the blood This procedure is used more in patients who cannot undergo traditional biopsy, but can also be performed in other patients to gather more evidence for management. (medscape.com)
Indeed, the identification of histotype-specific (pathognomonic) gene alterations is of paramount importance in the differential diagnosis among sarcoma variants, between malignant and benign mimics, as well as between sarcoma and other tumor types ( 1 - 3 ). (frontiersin.org)

The applications of this technology are quite varied, from assembling chromosome-scale genomes, linking non-coding disease-associated risk variants to target genes, understanding the mechanisms of gene regulation in a wide variety of diseases, and detecting gene fusions in tumor samples that were missed by other technologies, to name a few. (arimagenomics.com)
Several transcript variants have been described for this gene. (nih.gov)
When interpreting and troubleshooting fusion variants, I usually find myself reaching for the VCF spec. (goldenhelix.com)
Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)
Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (cancerindex.org)

Ideogram of gene fusions in twelve sarcoma samples. (pacb.com)
A rare sarcoma of soft tissues, known as the EHE - Epithelial Hemangio-Endothelioma is driven by the mutated versions of YAP or TAZ genes. (oist.jp)
Clear cell sarcoma, or CCS, is a type of cancer called soft tissue sarcoma . (cancer.gov)
Sarcomas are rare cancers and CCS is a rare type of sarcoma, making up 1% of sarcoma cases. (cancer.gov)
Clear Cell Sarcoma was originally published by the National Cancer Institute. (cancer.gov)

In summary, this study provides the first characterization of fusion genes in a cohort of TNBC and HGSOC patients. (broadinstitute.org)

The Thyroid Cancer Mutation Panel requires a real-time PCR instrument capable of detecting FAM and VIC fluorescent probes. (molgendia.pl)
EntroGen's Thyroid Cancer Mutation Panel is provided for research use only (RUO) . (molgendia.pl)
EntroGen's Thyroid Cancer Mutation Panel is available for research ( RUO ) and diagnostic (CE-IVD) purposes. (molgendia.pl)
Protein mutation is essential in species evolution and cancer development. (elifesciences.org)
The combination of gene expressions, fusion gene transcripts, and mutation gene expressions significantly improved the classification of liver cancer cells versus benign hepatocytes. (elifesciences.org)
A mutation on this gene also affects how your cells grow and spread. (webmd.com)
In this mutation, two genes fuse together to create a new one. (webmd.com)
When you have this kind of mutation, there's a glitch that creates too many copies of the MET gene. (webmd.com)
You're more likely to have a mutation on this gene if you're a smoker. (webmd.com)
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. (genomeweb.com)
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. (genomeweb.com)
controlled for UV-induced mutational load by comparing mutated genes-of-interest against a baseline level of intronic mutation. (frontiersin.org)
Arg1275Gln has been found in both familial and sporadic neuroblastoma and is the only common ALK gene mutation that has been found in both types of the condition. (medlineplus.gov)
BRCA germline mutation test for all woman with ovarian cancer? (cdc.gov)

The first solid tumor exomes to be investigated were from 11 breast and 11 colorectal cancer tissue samples. (frontiersin.org)
Colorectal cancer can be lowered by up to 7% by increasing dietary consumption of folate rich foods like spinach, broccoli or taking folate supplements. (medindia.net)
Energy balance related lifestyle factors and risk of endometrial and colorectal cancer among individuals with lynch syndrome: a systematic review. (cdc.gov)

Purpose: Gene fusions are important oncogenic drivers and many are actionable. (researchgate.net)

Here, we investigate the fusion gene landscape in triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC), two subtypes of female cancers with high molecular similarity but limited treatment options at present. (broadinstitute.org)
PurposePrevious studies indicate that breast cancer molecular subtypes differ with respect to their dependency on autophagy, but our knowledge of the differential expression and prognostic significance of autophagy-related biomarkers in breast cancer is limited.Methods Immunohistochemistry (IHC) was performed on tissue microarrays from a large popu. (researchgate.net)
The occurrence of epimutations early in pregnancy challenges traditional theories related to carcinogenesis and the risk of developing breast cancer. (medindia.net)
Objective To compare the financial and time cost of breast cancer biomarker analysis by immunohistochemistry with that by the Xpert® STRAT4 assay. (bvsalud.org)
Methods We estimated costs (personnel, location, consumables and indirect) and time involved in breast cancer diagnosis at the Butaro Cancer Centre of Excellence, Rwanda, using time-driven activity-based costing. (bvsalud.org)
Findings We estimated that breast cancer diagnosis in Rwanda costs 138.29 United States dollars (US$) per patient when conducting biomarker analysis by immunohistochemistry. (bvsalud.org)
Genetic Testing for Breast Cancer Susceptibility Should Be Offered before Unilateral Abdominally Based Free Flap Breast Reconstruction. (cdc.gov)
Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing? (cdc.gov)

Nowhere is this more evident than in the field of oncology, where we can now understand each patient's cancer at the level of its molecular blueprint. (globaltort.com)
Raw IDAT files are processed through the CNS methylation classifier developed by the Molecular Neuropathology group at the German Cancer Research Center (DKFZ) (PMID: 29539639). (jax.org)

Experimental design: Using WGS and RNA-seq, we reviewed the prevalence of fusions in a cohort of 570 patients with cancer, and compared prevalence. (researchgate.net)

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. (cancerindex.org)

Beside diagnostic relevance, the expression of fusion transcripts may have prognostic and/or predictive implications. (frontiersin.org)
Annexin A2 and S100A10 as Candidate Prognostic Markers in Epithelial Ovarian Cancer. (cancerindex.org)
The aim of this study was to examine whether Annexin A2 and S100A10 expression can be used as prognostic markers for epithelial ovarian cancer (EOC). (cancerindex.org)
Prognostic values of S100 family members in ovarian cancer patients. (cancerindex.org)
While the prognostic value of each individual S100 in ovarian cancer is still elusive. (cancerindex.org)
In current study, we investigated the prognostic value of S100 family members in the ovarian cancer. (cancerindex.org)

It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and Cell Genetics, containing 3,844 cases. (wikipedia.org)
The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)

protein composed of uncontrolled TRK enzymes, which promote cancer growth. (curetoday.com)
Most human genes go through alternative splicing to create different transcript isoforms that impact the functional protein. (pacb.com)
The protein diversity of mammalian cells is determined by arrays of isoforms from genes. (elifesciences.org)
This gene controls a protein called "epidermal growth factor receptor. (webmd.com)
The KRAS gene plays a role in making a protein called K-Ras, which helps cells grow and divide. (webmd.com)
The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. (nih.gov)
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
This work is the result of collaborations between the research groups of Professor Flores-Morales at IVS, Professor Matthias Mann at Novo Nordisk Foundation Center for Protein Research both from the Faculty of Health and Medical Sciences together with the Danish Cancer Society Research Center and Associate Professor Pernilla Wikström from the Umeå University, Sweden. (sciencedaily.com)
This translocation fuses the ALK gene to the NPM gene and results in a fusion protein called NPM-ALK. (medlineplus.gov)

But as researchers continued to study gene fusions, they realized those fears were unfounded. (curetoday.com)
So far, researchers have mostly relied on short-read sequencing technology to identify fusion genes. (pacb.com)
And while several published studies show how long-read sequencing is more effective at discovering gene fusions accurately, researchers need a fusion calling tool to help them quantify and annotate fusions found in their Iso-Seq data. (pacb.com)
The gene fusion biomarker is also a different type of fusion than researchers have found in cancer previously and may represent an entirely new mechanism that cancer cells use to outgrow their healthy neighbors. (eurekalert.org)

In an era where genetics is reshaping our understanding of diseases, recent customer research publications offer invaluable insights, particularly in the realm of cancer. (goldenhelix.com)

The efficacy was demonstrated in a total of 237 patients with locally advanced or metastatic RET fusion-positive NSCLC. (ons.org)
Oral pralsetinib is also indicated for the treatment of patients aged ≥12 years with advanced or metastatic RET fusion-positive thyroid cancer who require systemic therapy and who are radioactive iodine refractory (if radioactive iodine is appropriate). (oncpracticemanagement.com)
The most common category of nonmesotheliomatous cancer to involve the pleura is represented by extrapleural primary malignancies that secondarily involve the pleura via metastatic spread. (medscape.com)
Erlotinib has been approved by the FDA for use, in combination with gemcitabine, as a first-line treatment for locally advanced, unresectable, or metastatic pancreatic cancer. (medscape.com)

This expands our understanding of how tumor cells may hijack androgen-regulated genes with neighboring genes and effectively alter its regulation. (eurekalert.org)

In the first post-hoc subgroup analysis presented at ASCO of adult patients with tropomyosin receptor kinase (TRK) fusion cancer across 24 different tumor types, including those with central nervous system (CNS) metastases, treatment with larotrectinib demonstrated an ORR of 57%, including 16% complete responses and 41% partial responses. (pharmacytimes.com)
In the final analysis, larotrectinib was evaluated in updated subgroup analyses of patients with TRK fusion thyroid cancer. (pharmacytimes.com)
This response, and those of two other patients enrolled in the trial, was published in the journal Cancer Discovery in March 2013. (globaltort.com)
Today, the technology exists to routinely profile individual patients' cancers, enabling physicians to target the tumour with therapies that can control and potentially eradicate the cancer, realizing the promise of precision medicine for many. (globaltort.com)
With better diagnosis, we will be able to treat cancer patients with individualized therapies -- one of the main goals of the Cancer Center at NewYork-Presbyterian Hospital/Weill Cornell Medical Center," continues Dr. Rubin, who is the Center's associate director of translational research and a pathologist at NewYork-Presbyterian Hospital/Weill Cornell Medical Center. (eurekalert.org)
We will examine the expression of these fusions in patients treated with neo-adjuvant chemotherapy pre and post therapy and examine the biologic function of prioritized RNA fusion events. (dtic.mil)
A study by Fogh et al of induction chemoradiotherapy followed by surgery, a strategy that is widely used in treating esophageal cancer, found that perioperative morbidity and mortality with this approach was not significantly different in patients aged 70 years or older compared with younger patients. (medscape.com)
The FDA's conversion of the accelerated approval to regular approval for patients with NSCLC and RET fusion-positive disease was based on data from an additional 123 patients and 25 months of additional follow-up to assess durability of response to pralsetinib in patients. (oncpracticemanagement.com)
At first, some patients may be diagnosed with malignant melanoma of soft parts because cells of both of these cancers look alike under a microscope. (cancer.gov)
Gene expression of FOXP1 was significantly elevated in patients with vs. without FOXP1 fusion (P= 0.02). (broadinstitute.org)
Your gift will help support our mission to end cancer and make a difference in the lives of our patients. (mdanderson.org)
Though challenges remain, clinicians are in the early stages of using genetic data to make treatment decisions for cancer patients. (frontiersin.org)

Thyroid cancer is the most common endocrine malignancy in the United States. (molgendia.pl)

Following detection, we annotated the gene fusions using published databases for gene fusions in cancer. (biomedcentral.com)
Accurate and sensitive detection of fusion genes and their transcript structures is needed to interpret functional consequences, understand tumor biology and evolution, and identify potential therapeutic targets. (pacb.com)
In a collaboration between University of Calgary and PacBio, a new fusion gene detection software has been created - pbfusion. (pacb.com)
Fusion detection reactions are done using a one-step enzyme mix that combines cDNA synthesis and qPCR into a single step. (molgendia.pl)
High-grade serous ovarian cancer HGSOC is known for its lack of early detection, limited therapies, and high rate of recurrence. (dtic.mil)
Defining a mutational signature for endometrial cancer screening and early detection. (cdc.gov)

Advances in this field point to a more complex model of tumor development than previously envisioned, in which the stem-like phenotype may be dynamically acquired by cancer cells. (hindawi.com)
The gain and losses of important genes and regulatory elements due to SVs will impact phenotype causing disease such as cancer and sex development disorders. (mdanderson.org)

The interplay between stem cell and tumor biology offers an exceptional opportunity to advance our knowledge about cancer, one of the leading causes of death worldwide, with potential impacts in cancer diagnosis and therapy. (hindawi.com)

So far, this is the only gene rearrangement in any of the most prevalent cancers. (uni-luebeck.de)
Colorectal cancers are one of the most prevalent tumour types worldwide and, despite the emergence of targeted and biologic therapies, have among the highest mortality rates. (researchgate.net)

ELK4 promotes the development of gastric cancer by inducing M2 polarization of macrophages through regulation of the KDM5A-PJA2-KSR1 axis. (nih.gov)

Early age at onset, multiple family members with the same or related cancer, and the occurrence of multiple primary cancers are common signs suggesting hereditary cancer. (medscape.com)
These are called "inherited" or "hereditary" gene changes. (webmd.com)

PacBio full-length RNA isoform sequencing (Iso-Seq method) resolves complex fusions , providing more accurate breakpoints, and a complete sequence readout of associated fusion transcripts. (pacb.com)
The top two panels contain the annotated transcripts for each gene, with ASPSCR1 in orange and TFE3 in blue. (pacb.com)
Novel fusion transcripts were detected. (elifesciences.org)
This work describes the set-up of a shared platform among the laboratories of the Alleanza Contro il Cancro (ACC) Italian Research Network for the identification of fusion transcripts in sarcomas by using Next Generation Sequencing (NGS). (frontiersin.org)

Over the past decade, the identification of stem-like cells as drivers of tumor initiation, recurrence, and metastasis spread in a variety of human cancers had a tremendous impact in basic and translational cancer research. (hindawi.com)

The defining cytogenetic abnormality, a translocation at the 8p11 locus, was found to involve the FGFR1 gene [ 14 ]. (nature.com)

A change to this gene is more common if you have the adenocarcinoma type of NSCLC. (webmd.com)

Regulation: by looking at the organization of DNA in the nucleus, you can detect 3D interactions that yield powerful insights into mechanisms of gene regulation. (arimagenomics.com)

pbfusion is a new software tool for detecting gene fusions and other transcriptional abnormalities in PacBio Iso-Seq data. (pacb.com)

Although two newly described oncogenes known as YAP and TAZ are not generally mutated in human cancers, there is one exception. (oist.jp)

Identify genes of interest, their locations, and how SVs impact them for downstream Applications. (mdanderson.org)

Ovarian cancer (OC) is the 5th most common cancer among European women. (cancerindex.org)

To relate the occurrence of gene fusions to Gleason Grading Groups and disease prognosis, we performed survival analyses using the Kaplan-Meier estimator, log-rank test, and Cox regression. (biomedcentral.com)

Fusion genes can be therapeutically relevant if they result in constitutive activation of oncogenes or repression of tumor suppressors. (broadinstitute.org)

In this NUP98r, the C-terminal chromatin recognition modules of BPTF, a core subunit of the NURF ( nucleosome remodeling factor) ATP -dependent chromatin - remodeling complex, are fused to the N-terminal moiety of NUP98, creating an in frame NUP98-BPTF fusion, with structural homology to NUP98-KDM5A. (bvsalud.org)

Our scientists pursue every aspect of cancer research-from exploring the biology of genes and cells, to developing immune-based treatments, uncovering the causes of metastasis, and more. (mskcc.org)

Anatomy8

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Diseases37

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