• 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)
  • 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)
  • 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)
  • Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)
  • Chromosome segregation errors cause aneuploidy and genomic heterogeneity, which are hallmarks of cancer in humans. (nature.com)
  • Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
  • Browse BigQuery tables of metadata and molecular cancer data from the Genomic Data Commons and other sources. (appspot.com)
  • The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. (springer.com)
  • Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.com)
  • It is well documented that telomere dysfunction plays a significant role in the initiation of genomic instability during carcinogenesis in human breast cancer. (metasystems-probes.com)
  • Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
  • For the current analysis, the research team measured the extent of genomic loss of 9p24.1 in the cancer cells of patients with HNSC-HPVneg as captured by the National Cancer Institute's massive database on cancer cell genetics, the Cancer Genome Atlas, as well as in patient datasets from a company called Caris Life Sciences. (sciencedaily.com)
  • Because the exact genomic position is known, aberrations can also be mapped directly onto the chromosomal location. (mlo-online.com)
  • Understanding of the association of genomic characteristics and clinical properties of primary tumor samples, xenografts or cell lines contributes to personalized cancer medicine through the development of predictive biomarkers of drug efficacy. (biomedcentral.com)
  • The RB1 gene is involved in the regulation of cell cycle progression and genomic stability. (atlasgeneticsoncology.org)
  • Defects in DNA damage repair can lead to genomic instability and cancer development. (villajoyosacf.info)
  • Genomic instability is a hallmark of cancer and is regulated by the balance between DNA damage and repair (Aguilera and Garcia-Muse, 2013). (villajoyosacf.info)
  • The tumor also contained a novel t(2;22)(q34;q12) translocation involving the EWSR1 gene, which is consistent with additional reports suggesting that a growing list of translocations can drive formation of, and potential new management strategies for, EMC. (cancer-genetics.org)
  • HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)
  • and insertions, inversions and translocations which create fusion genes. (me.uk)
  • Among a wide range of molecular genetic abnormalities, particular attention during the last years has been concentrated on studying the so-called double-hit MCL within a subgroup of patients with translocations involving CCND1 and MYC genes. (bloodjournal.ru)
  • It has been postulated that the non-random CT's spatial organization within the cell nucleus contributes to the emergence of chromosome translocations. (bioimagingnorthamerica.org)
  • Balanced secondary changes are rare in CML AP/BC, but it is not known whether cryptic chromosomal translocations, generating fusion genes, may be responsible for disease progression in a subgroup of CML. (lu.se)
  • Rearrangements, such as inversions and translocations, give rise to tumor-driving fusion products as in the case of BCR-Abl and the Philadelphia Chromosome as well as in more recent findings implicating fusion structures in solid tumors. (biomedcentral.com)
  • Depending on the type of abnormalities, it can be classified into numerical CIN (nCIN), characterized by chromosome gains and losses, and structural CIN (sCIN) represented by chromosome translocations [ 2 ] . (encyclopedia.pub)
  • This may involve the addition or loss of chromosome material like chromosome deletions, chromosome duplications, chromosome insertions, chromosome inversions or chromosome translocations. (medinfo.no)
  • We currently focus in the main on three subprojects within the said strategy, namely the study of ovarian tumors, the study of brain tumors, and the molecular characterization of gene-level consequences (fusion genes) of previously unknown cancer-associated translocations that we uncover during our cancer cytogenetic diagnostic work. (medinfo.no)
  • Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)
  • Prior to 2017, extrachromosomal DNA was thought to be a rare, but interesting event in cancer (1.4% of tumors), of unclear biological significance. (wikipedia.org)
  • Many cases of NMIBC tumors have a chromosome 9 deletion, which typically occurs early in tumor formation. (medlineplus.gov)
  • There is no genetic coding pattern among metastatic tumors pan-cancer. (bioimagingnorthamerica.org)
  • An important development in cancer research over the past 2 decades has been the recognition that genetic changes drive the pathogenesis of tumors of both adulthood and childhood. (medscape.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)
  • A 2021 study led by the same research team had shown that the chromosome arm 9p is more likely to be lost in immune cold tumors that do not respond to immunotherapy. (sciencedaily.com)
  • Cancer research therefore makes use of data analysis methods and tools that address interpretation of copy number data and the understanding of the effect of genome changes on transcriptome level as well as proteome level profiles of tumors. (biomedcentral.com)
  • Computational biologists focusing on cancer develop methods for the genome scale characterization of tumors, on various levels of the molecular process. (biomedcentral.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)
  • Second, fluorescence in situ hybridization was conducted for the region containing the HMGA2 gene in addition to expression analysis, to study the recurrence of changes at this locus. (annexpublishers.co)
  • To address this issue, we used multicolor combined binary ratio fluorescence in situ hybridization (FISH), which allows the simultaneous visualization of all 24 chromosomes in different colors, verified by locus-specific FISH in a series of 33 CML cases. (lu.se)
  • 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)
  • These studies reveal that recurrent somatic mutations occur in only a handful of genes, with an overall mutational burden of roughly 1-2 per Mb. (springer.com)
  • In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)
  • The in vitro culture was established with cells isolated from ascites of a 60-year-old female patient with recurrent ovarian cancer. (biomedcentral.com)
  • For example - how do genome structural aberrations and changes in copy number, a result of increased genome instability in cancer, affect the expression of genes and other functional elements such as miRNA, and how do the latter changes affect the function of related proteins. (biomedcentral.com)
  • Chromosome instability (CIN) is an increased rate where chromosome acquire alterations due to errors in cell division. (encyclopedia.pub)
  • Mitelman F. Cancer: Chromosomal Abnormalities. (lu.se)
  • To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
  • We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
  • Since Boveri's theory that chromosome abnormalities promote cancer, studies have attempted to elucidate the mechanisms behind the origins of chromosomal aberrations [ 1 ] . (encyclopedia.pub)
  • CIN can promote selective advantage to cancer cells by increasing the probability of novel chromosomal abnormalities, which can change the expression profile of the genes regulating cell division and differentiation, resulting in high proliferation rates [ 3 ] [ 4 ] . (encyclopedia.pub)
  • The most frequent chromosomal abnormalities are partial losses of one affected chromosome ( del(6q) , del(11q) , del(13q) or del(17p) ) and gains of entire chromosomes ( trisomy 12). (atlasgeneticsoncology.org)
  • Surprisingly, 39% of all embryos contained cells with abnormalities of entire sets of maternal and/or paternal chromosomes. (cshlpress.org)
  • This ground-breaking work challenges existing chromosomal maps of cancer, provides new insights into the mechanisms controlling the level, location and activity of amplified oncogenes, and yields new paradigms in the genotype-environment interactions that promote cancer progression and drug resistance. (wikipedia.org)
  • These studies, focused primarily on the highly lethal brain cancer, glioblastoma, resulted in new understandings of the fundamental metabolic processes by which oncogene amplification drives cancer progression and drug resistance, demonstrating a central role for EGFR and its downstream effector mTORC2, in cancer pathogenesis through metabolic reprogramming. (wikipedia.org)
  • 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)
  • 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)
  • It is likely that a loss of one or more of these genes plays a role in the early development and progression of bladder cancer. (medlineplus.gov)
  • The retinoblastoma (Rb) tumour suppressor, for example, directly inhibits progression of the cell cycle into the synthesis phase by inhibiting the transcription of genes such as DNA polymerases, which are required for duplicating the DNA. (me.uk)
  • 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)
  • 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)
  • In 2021, he joined Stanford University School of Medicine, where he currently serves as a Professor and Vice Chair of Research for the Department of Pathology and Institute Scholar of ChEM-H. Mischel's work bridges cancer genetics, signal transduction and cellular metabolism in the pathogenesis of human cancer. (wikipedia.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)
  • With a basis in stem cell biology, genetics, immunology and cancer, the major goal of our research is to develop new immunotherapies that target leukemia and other malignancies. (lu.se)
  • Since 1933, it has furthered the advance and spread of scientific knowledge in all areas of genetics and molecular biology, including cancer biology, plant science, bioinformatics, and neurobiology. (cshlpress.org)
  • Christina Curtis, PhD, MSc is the RZ Cao Professor of Medicine, Genetics and Biomedical Data Science at Stanford University where she also serves as the Director of Artificial Intelligence and Cancer Genomics and of Breast Cancer Translational Research. (stanford.edu)
  • Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy ( Zagozdzon and Golab, 2015 ZAGOZDZON, R. and GOLAB, J., 2015. (scielo.br)
  • novel mutations in sh2d1a gene in x-linked lymphoproliferative syndrome, diagnosed after b-cell non-hodgkin lymphoma. (liverpool.ac.uk)
  • x-linked lymphoproliferative disease type i (xlp i) is caused by mutations in the sh2d1a gene and characterized mainly by hypogammaglobulinemia and abnormal response to epstein-barr virus with a high predisposition to b-cell non-hodgkin lymphoma development. (liverpool.ac.uk)
  • For example, Asians are thought to be less susceptible compared to Caucasians or Africans, in whom certain cancer-linked genetic mutations and alterations are more common. (thelifeofscience.com)
  • For example, the alterations and mutations responsible for prostate cancer in one person may be different from another. (thelifeofscience.com)
  • Herein, we describe cytogenetic, genetic and molecular aberrations in MDS, focusing on epigenetic alterations through PcG. (karger.com)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
  • A frequent genetic alteration is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusively in the cellular variant, which is diagnostic. (medscape.com)
  • A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
  • The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (medlineplus.gov)
  • Apart from the typical translocation t(11;14)(q13;q32) and more rare variants, such as t(2;11)(p11;q13) and t(11;22)(q13;q11), a considerable number of patients quite often show secondary molecular and chromosomal aberrations underlying heterogeneity of the clinical course of MCL. (bloodjournal.ru)
  • This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. (cancerindex.org)
  • For induction of remission and consolidation in patients with APL who are refractory to, or have relapsed from, retinoid and anthracycline chemotherapy, and whose APL is characterized by the presence of the t(15;17) translocation or PML/RAR-alpha gene expression. (nih.gov)
  • The Clinical Associations Searcher searches studies pertaining to clinical associations of cytogenetic aberrations and/or gene rearrangements. (isb-cgc.org)
  • 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 datasets included transcriptome-wide expression and matched clinical follow-up data to detect and characterize gene fusions in PCa. (biomedcentral.com)
  • The reality of the clinical research laboratory instead demands a certain level of pragmatism, and a balance must be met between the size of the aberrations reported and the overall efficiency of a given approach. (mlo-online.com)
  • As more data accumulated and were correlated with relevant clinical parameters, it was also discovered that the tumor karyotype could be an important prognostic parameter and one that could be used to decide which treatment was optimal in individual cancer cases. (medinfo.no)
  • We also discuss the p53-dependent and p53-oncogenic function of MDM2 and the results of clinical trials using clinical inhibitors targeting p53-MDM2 for the treatment of certain cancers. (villajoyosacf.info)
  • Our data have provided evidence for a comparable prediction of clinical outcome in CMF-treated breast cancer patients using conventional clinical variables and gene expression based markers. (lu.se)
  • Breast cancer is a heterogeneous disease with a large variabil- survival after adjuvant polychemotherapy was 10% (from ity in clinical outcome. (lu.se)
  • They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
  • This rearrangement leads to the fusion of BCR and ABL1 genes giving rise to a chimeric protein with constitutive kinase activity. (bioimagingnorthamerica.org)
  • Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. (scielo.br)
  • The disease generally begins with a genetic transformation - a mutation, or chromosomal aberration - and further genetic changes accumulate as the disease progresses. (me.uk)
  • A gene product can be lost, for example by mutation to its promoter regions, or may be left unable to efficiently perform its role, for example by a missense mutation. (me.uk)
  • 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)
  • Au WY, Fung AT, Ma ES, Liang RH, Kwong YL: Low frequency of FLT3 gene internal tandem duplication and activating loop mutation in therapy-related acute myelocytic leukemia and myelodysplastic syndrome. (karger.com)
  • For nearly one hundred years, a dominant hypothesis about carcinogenesis has been that acquired genetic changes restricted to one or a few somatic cells bring about their neoplastic transformation (the somatic mutation theory of cancer). (medinfo.no)
  • Clear cell, papillary cell, and chromophobe renal cell carcinomas (RCCs) have now been well characterised thanks to large collaborative projects such as The Cancer Genome Atlas (TCGA). (springer.com)
  • International Cancer Genome Consortium. (cancerindex.org)
  • 21.1.2 Evaluate your Cas9 gene editing vectors: CRISPR/Cas Mediated Genome Engineering - Is your CRISPR gRNA optimized for your cell lines? (pharmaceuticalintelligence.com)
  • 1 However, CNVs occurring within coding or regulatory regions of the genome can also have an adverse effect on gene expression. (mlo-online.com)
  • In essence, aberrations within the test genome are detected through comparison with a normal reference genome. (mlo-online.com)
  • Samples are complex and heterogeneous, and cancer related mechanisms involve many layers of the process that leads from the genome to cellular function. (biomedcentral.com)
  • One example of a specific need of cancer is the study of large scale aberrations in the genome. (biomedcentral.com)
  • 2014). Although is characterized by a relatively stable genome, acquired genetic aberrations have an important role in CLL prognosis. (atlasgeneticsoncology.org)
  • In a study published online today in Genome Research , researchers have discovered errors during the earliest stages of embryonic development can lead to entire sets of maternal and paternal chromosomes segregating into different cells, resulting in chimeric embryos. (cshlpress.org)
  • Browse the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer which relates cytogenetic changes, in particular gene fusions, to tumor characteristics. (appspot.com)
  • The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
  • To determine the mechanisms underlying MSI2 over-expression in our patient we performed Chromatin Immunoprecipitation and found that NUP98/HOXA13 fusion protein deregulates MSI2 gene by binding its promoter. (biomedcentral.com)
  • Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia. (cancercentrum.se)
  • This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. (cancerindex.org)
  • Super-resolution imaging, a powerful tool for the analysis of chromosome topology applied to the study of treatment resistance in cancer. (bioimagingnorthamerica.org)
  • Asimakopoulos FA, White NJ, Nacheva E, Green AR: Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. (karger.com)
  • Deletions of part or all of chromosome 9 are commonly found in bladder cancer. (medlineplus.gov)
  • 2000).It has been extensively demonstrated that large 13q losses involving RB1 gene are related to shorter time to first treatment (TTFT) and overall survival (OS) than those small deletions encompassing only MIR15A/MIR16-1. (atlasgeneticsoncology.org)
  • Recently, a second clonal event involving the HMGA2 gene was reported in some PNH cases, and over expression of this gene was postulated to promote proliferation of the mutated clone. (annexpublishers.co)
  • Based on this finding, HMGA2 was considered to be a candidate driver gene, as ectopic expression induced cellular proliferation [ 12 ]. (annexpublishers.co)
  • Cancers are a group of diseases characterised by the loss of control of the proliferation of a cell line, leading to invasion and destruction of tissues. (me.uk)
  • It is therefore conceivable that the inhibition of the function of these genes may specifically affect the proliferation and survival of brain tumor cells. (cancerindex.org)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • chronic myeloid leukemia (cml) is characterized by increased and unregulated proliferation of granulocytic lineage in the bone marrow and presence of these immature myeloid cells in the peripheral blood with presence of philadelphia (ph) chromosome. (liverpool.ac.uk)
  • Low to moderate levels of CIN seems to be well tolerated and can promote cancer proliferation, genetic diversity, and tumor evolution. (encyclopedia.pub)
  • The pathogenic role of del(13q) in CLL has been related to lack of B-cell proliferation control allegedly determined by deletion of the DLEU2 / MIR15A / MIR16-1 locus, which is known to contain negative regulators of the expression of the BCL2 gene (Cimmino et al. (atlasgeneticsoncology.org)
  • The oncoprotein murine double minute 2 (MDM2) promotes cell survival, proliferation, invasion, and therapeutic resistance in many types of cancer. (villajoyosacf.info)
  • This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. (cancer-genetics.org)
  • Structural Changes in the Chromosomes Some times the material in an individual chromosome is disrupted or rearranged. (medinfo.no)
  • 3412. L.G. Koss, 'Characteristics of chromosomes in polarized normal human bronchial cells provide a blueprint for nuclear organization,' Cytogenet. (nanomedicine.com)
  • The protein produced from the BCR-ABL1 gene signals cells to continue dividing abnormally and prevents them from self-destructing, which leads to overproduction of the abnormal cells. (medlineplus.gov)
  • OBJECTIVES: Venetoclax has shown synergism with BCR-ABL1 tyrosine kinase inhibitors (TKIs) in preclinical studies for patients with Philadelphia chromosome-positive (Ph+) leukemias. (bvsalud.org)
  • Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. (cancerindex.org)
  • All children found negative ( n = 44) for the MKRN3 gene were further investigated by whole exome sequencing (WES). (frontiersin.org)
  • Mitelman F. Cancer gene fusions detected by massive parallel sequencing. (lu.se)
  • Subclonal diversification of primary breast cancer revealed by multiregion sequencing. (nature.com)
  • Explore a comprehensive selection of cancer related data files in Google Cloud Storage Buckets, such as raw sequencing, cancer nucleotide variation, pathology or radiology images. (appspot.com)
  • The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)
  • Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)
  • Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the MKRN3 gene. (frontiersin.org)
  • Your doctor will suggest a treatment plan based on the initial immunophenotype of the ALL, and later findings from the oncogene fusion transcripts, cytogenetics, and RNA sequencing. (parkwayeast.com.sg)
  • Musashi2(Msi2)-Numb pathway de-regulation is a molecular mechanism underlying the transition of chronic phase Ph + CML to deadly blast crisis, particularly in cases with a NUP98/HOXA9 fusion from a t(7;11)(p15;p15). (biomedcentral.com)
  • Up-regulation of both genes emerged only in the presence of NUP98/HOXA13 gene fusion. (biomedcentral.com)
  • We investigated MSI2 regulation in the first case of Ph-positive CML in blast crisis with t(7;11) and NUP98/HOXA13 fusion gene. (biomedcentral.com)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • 9p houses many genes, including those that encode interferons, a set of immune system signaling proteins that can trigger attack on cancer cells, at a location (locus) called 9p21. (sciencedaily.com)
  • The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)
  • In 1960, solid evidence in favor of this theory was for the first time provided when the same small marker chromosome (the Philadelphia (Ph) chromosome, see figure) was found in bone marrow cells from three patients with chronic myeloid leukemia. (medinfo.no)
  • They demonstrated widespread extrachromosomal oncogene amplification across many cancer types, showed that it potently drives tumor evolution and drug resistance, and identified specific signaling, biochemical and metabolic mechanisms that control its copy number and activity in response to changing environmental conditions. (wikipedia.org)
  • Identifying immune evasion mechanisms in cancer. (lu.se)
  • Possible mechanisms for gram for breast cancer in southern Sweden issued 1991, pre- recurrence after treatment are low initial drug sensitivity or menopausal lymph node positive (N+) breast cancer patients an acquired drug resistance. (lu.se)
  • Radiotherapy was delivered to ipsilateral axil- cancer patients in the future, it is essential to increase our lary and supraclavicular lymph nodes and the remaining knowledge in mechanisms responsible for drug resistance, breast parenchyma after breast conservation surgery or tho- and to define reliable indicators for response to therapy. (lu.se)
  • Previous studies involving in vitro fertilized (IVF) human embryos have demonstrated large fractions of embryos contain at least one cell with either whole or partial gains or losses of chromosomes. (cshlpress.org)
  • CNVs (copy number variations) were recently recognized as abundant in normal cell populations and as related to many other disease types but they are still a hallmark of cancer [ 1 , 2 ]. (biomedcentral.com)
  • Excessive telomere shortening is observed in breast cancer lesions when compared to adjacent non-cancerous tissues, suggesting that telomere length may represent a key biomarker for early cancer detection. (oncotarget.com)
  • In a control cohort of 68 human lymphocytes, telomere length and telomere aberrations were age-dependent and showed high inter-individual variation. (metasystems-probes.com)
  • The current models for CIN involve telomere dysfunction, defective spindle assembly, sister chromatid cohesion, DNA double-strand breaks (DSB) repair, genes involved in the cell cycle, and epigenetic regulators. (encyclopedia.pub)
  • Our gene fusion characterization workflow revealed two potential novel fusions specific for PCa. (biomedcentral.com)
  • To the best of our knowledge, this is the first molecular characterization of NUP98/HOXA13 fusion in blast crisis of Ph + CML. (biomedcentral.com)
  • Gerlinger, M. & Swanton, C. How Darwinian models inform therapeutic failure initiated by clonal heterogeneity in cancer medicine. (nature.com)
  • Successful completion of these projects will identify new therapeutic targets in acute myleoid leukemia (AML) and expand our knowledge regarding how cancer cells evade the immune system, findings that may translate into new therapeutic opportunities. (lu.se)
  • Our lab wants to discover anti-cancer therapeutic targets," she began. (thelifeofscience.com)
  • Patients with head and neck cancer who have more genetic material on chromosome 9 in their cancer cells survive three times longer after receiving immunotherapy than those with less genetic material there. (sciencedaily.com)
  • This revealed no aberration of the chromosomal region containing the HMGA2 gene in the cohort, and HMGA2 expression was surprisingly only detectable in a single case. (annexpublishers.co)
  • In the latter analysis, the status of variants in genes known to be related with pubertal timing was compared with an in-house Cypriot control cohort (n = 43). (frontiersin.org)
  • In around a quarter of breast cancers it is over expressed, thus inappropriate activation of downstream signals occurs (amongst them, RAS and Rb). (me.uk)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • To date, molecular genetic studies of CML BC have mainly focused on alterations of well-known tumor-suppressor genes (e.g. (lu.se)
  • Cancer is a heterogeneous disease and is characterised by multiple genetic alterations. (thelifeofscience.com)
  • In addition, Bushra also wants to identify the patterns of gene alterations that occur in the Indian population. (thelifeofscience.com)
  • Genetic alterations occur when genes get rearranged in some way. (thelifeofscience.com)
  • Once such alterations are identified, treatments can be devised to block the functioning of such genes. (thelifeofscience.com)
  • The team also identified the presence of other genetic alterations and gene fusions linked to prostate cancer. (thelifeofscience.com)
  • Those patients with large 13q losses showed downregulation of ten genes including TPT1 (TCTP), which in involved in prosurvival and growth signaling through inhibition of BAX -induced apoptosis and overexpression of 53 genes. (atlasgeneticsoncology.org)
  • II-The RB1 gene, localized at chromosomal band 13q14.1-q14.2 that can be considered, when found deleted, as the marker of 13q deletion with larger chromosome losses (Ouillette et al. (atlasgeneticsoncology.org)
  • Explore the TP53 Database that compiles various types of data and information from the literature and generalist databases on human TP53 gene variations related to cancer. (appspot.com)
  • The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
  • Within B-lineage ALL, distinct signatures were associated with ALL1/AF4 and E2A/PBX1 gene rearrangements. (aacrjournals.org)
  • BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
  • Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
  • Delas A, Sophie D, Brousset P, Laurent C. Unusual concomitant rearrangements of Cyclin D1 and MYC genes in blastoid variant of mantle cell lymphoma: Case report and review of literature. (bloodjournal.ru)
  • Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)
  • The effect may be knock out an entire signalling or DNA repair pathway, the downstream effect being inappropriate promotion of the cell cycle, inappropriate gene expression, inability to trigger apoptosis, or accumulation of DNA damage. (me.uk)
  • Prostate cancer (PCa) is one of the most prevalent cancers worldwide. (biomedcentral.com)
  • Such copy number changes happen because errors occur as a cell divides into two and splits its chromosomes equally among its daughter cells, which occurs billions of times as a single-celled human embryo multiplies to form a fetus. (sciencedaily.com)
  • Cancer occurs due to multiple factors that not only vary with its type but also from one person to another depending on their genetic makeup. (thelifeofscience.com)
  • Del(13q) as the sole aberration occurs in the hemizygous state in approximately 75-80% of cases and in the homozygous state in the remaining 20-25% (Migliazza et al. (atlasgeneticsoncology.org)
  • The Philadephia Chromosome The Philadephia Chromosome - an abnormality where part of chromosome 9 is transferred to chromosome 22. (medinfo.no)
  • Research shows that several genes that control cell growth and division are located on chromosome 9. (medlineplus.gov)
  • The main role of p53 as a tumor suppressor relies on its transcriptional activity to regulate target genes in a variety of biological pathways (Sullivan et al. (villajoyosacf.info)
  • Dr. Curtis has been the recipient of numerous awards, including the National Institutes of Health (NIH) Director's Pioneer Award (2018) and the American Association for Cancer Research (AACR) Award for Outstanding Achievement in Basic Science (2022). (stanford.edu)
  • Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
  • April 12, 2016 - Single-cell embryos contain a set of maternal and paternal chromosomes, and as the embryo grows, daughter cells receive a copy of each. (cshlpress.org)
  • 3411. P.C. Park, U. De Boni, 'A specific conformation of the territory of chromosome 17 locates ERBB-2 sequences to a DNase-hypersensitive domain at the nuclear periphery,' Chromosoma 107(May 1998):87-95. (nanomedicine.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)
  • Her research has redefined the molecular map of breast cancer and led to new paradigms in understanding the origins of human cancers, as well as how they evolve and metastasize. (stanford.edu)
  • Data table showing topics related to specific cancers and associated disorders. (cancerindex.org)
  • Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
  • T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
  • It is not just loss of a signal or inappropriate under-expression of a gene which causes problems: over-expression or activation of signalling may also be problematic. (me.uk)
  • [2] Over-expression of signalling components can also be a cause of cancer: HER2, for example, is a receptor involved in the transduction of signalling from growth factors circulating in the blood, to pathways inside the cell. (me.uk)
  • PRAD1 gene over-expression in mantle-cell lymphoma but not in other low-grade B-cell lymphomas, including extranodal lymphoma. (bloodjournal.ru)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • However, over-expression of MSI2 , but not HOXA9 , was found in 2 cases of Ph + blast crisis with additional chromosome aberrations other than t(7;11). (biomedcentral.com)
  • Increased MDM2 expression is commonly observed in various types of cancer, suggesting its oncogenic function (Eischen and Lozano, 2014). (villajoyosacf.info)
  • We shall consider each subtype in turn describing genes and pathways of oncogenesis and how these relate to prognosis and treatment response. (springer.com)
  • The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)