AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth CareGeographicals
ChromosomesChromosome MappingChromosome BandingX ChromosomeChromosome AberrationsSex ChromosomesChromosomes, Human, Pair 1Chromosomes, HumanChromosome SegregationChromosomes, BacterialChromosomes, Human, Pair 17Chromosomes, Human, Pair 7Chromosomes, Human, Pair 11Chromosomes, Human, Pair 6Chromosome DeletionChromosomes, Human, Pair 9Chromosomes, Human, Pair 21Chromosomes, PlantChromosomes, FungalChromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Chromosomes, Human, Pair 16Chromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, Human, Pair 8Chromosome PairingChromosomes, MammalianChromosomes, Human, Pair 10Chromosomes, Human, Pair 4Chromosomes, Human, Pair 19Chromosomes, Human, YChromosome DisordersChromosomes, Human, XChromosomes, Artificial, BacterialChromosomes, Human, Pair 12In Situ Hybridization, FluorescenceChromosome PaintingChromosomes, Human, 1-3Chromosomes, Human, Pair 5Chromosomes, Human, Pair 15KaryotypingChromosomes, Human, Pair 18Chromosomes, Human, Pair 14Chromosomes, Human, Pair 20Chromosomes, Human, 16-18Chromosomes, Artificial, YeastGenetic LinkageChromosomes, Human, 13-15Early Detection of CancerGenetic MarkersChromosome BreakageChromosomes, Human, 21-22 and YMolecular Sequence DataRing ChromosomesBase SequenceMutationChromosome InversionChromosome PositioningChromosomes, Human, 4-5X Chromosome InactivationCentromereProstatic NeoplasmsOvarian NeoplasmsTranslocation, GeneticBreast NeoplasmsPhenotypeMitosisChromosomes, InsectHybrid CellsMicrosatellite RepeatsLung NeoplasmsMeiosisGenetic Predisposition to DiseaseAllelesChromosomes, Human, 19-20Chromosome StructuresGenotypePedigreeMetaphaseAneuploidyStomach NeoplasmsColonic NeoplasmsRecombination, GeneticPolymerase Chain ReactionNeoplasm MetastasisNeoplasmsLod ScoreNeoplasm InvasivenessGene Expression Regulation, NeoplasticCrosses, GeneticNeoplasm ProteinsPolymorphism, GeneticPancreatic NeoplasmsMice, NudeDNA, NeoplasmRNA, MessengerDNACloning, MolecularAmino Acid SequenceDNA-Binding Proteins
MutationsGenomicTumorsAberrationsGeneticMolecularTranslocationsDeletionsDeletionGeneticsProgressionOncogenesAlterationsGenomicsColorectal cancerSkipGenomeAbnormalities2023SomaticOvarianLungOncogeneExpressionHumansCandidate tumor suppFusionsCells2019HttpsCellularProteinsVariantsNucleusBreakpointsGermlineAbstract2016TP53GenomesFusion geneOccurRearrangementsHumanSeveral genesCertain cancers1999ColonAbnormalClinicalTumorigenesisDiagnosisMutationOncologySyndromeChromosomal regionPathwaysSequencesPatientsSuppressor
Mutations21
  • Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. (nih.gov)
  • More than 55 variants (also known as mutations) in the PMS2 gene have been associated with a condition called constitutional mismatch repair deficiency (CMMRD) syndrome. (medlineplus.gov)
  • Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. (medlineplus.gov)
  • Five of the 11 grade III astrocytomas (glioblastoma multiforme), but only one of seven grade II astrocytomas (anaplastic astrocytoma) and none of either the grade I astrocytomas or oligodendrogliomas demonstrated distinct point mutations involving the TP53 gene. (nih.gov)
  • We were unable to find mutations in the coding region of the gene in primary breast cancers showing LOH within the critical region. (mdc-berlin.de)
  • At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. (medlineplus.gov)
  • People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes. (medlineplus.gov)
  • Rarely, people with ALS caused by FUS gene mutations also develop a condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. (medlineplus.gov)
  • It is unclear why some people with FUS gene mutations develop FTD and others do not. (medlineplus.gov)
  • Specific mutations involving the FUS gene are involved in several types of cancer. (medlineplus.gov)
  • Most commonly, mutations in this gene are found in tumors called soft tissue sarcomas, which develop in bones or in soft tissues such as nerves or cartilage. (medlineplus.gov)
  • FUS gene mutations have also been found in myxoid liposarcomas, which occur in fatty tissues of the body, and in cancer of the blood-forming cells in the bone marrow called acute myeloid leukemia (AML). (medlineplus.gov)
  • ALS mutations in TLS/FUS disrupt target gene expression. (medlineplus.gov)
  • I am also involved in research on mutations and gene expression in cancer, especially multiple myeloma. (ntnu.edu)
  • Mutations in this gene may increase the risk of some cancers. (hopkinsmedicine.org)
  • The process of tumor development actually needs mutations in multiple growth control genes. (hopkinsmedicine.org)
  • Abnormalities (mutations) affecting critical genes are believed to contribute to the development of cancer. (msdmanuals.com)
  • Gene mutations causing cancer may result from the damaging effects of chemicals, sunlight, medications, viruses, or other environmental agents. (msdmanuals.com)
  • Suppressor gene mutations, inherited from a parent, may underlie a certain percentage of cases of breast cancer, usually occurring at a young age and in multiple family members. (msdmanuals.com)
  • Identification of individuals with mutations that make them more likely to develop certain cancers can allow them to take steps to prevent cancer or find it early if it develops, leading to improved health outcomes. (cdc.gov)
  • Somatic mutations of the lysyl oxidase gene on chromosome 5q23.1 in colorectal tumors. (bvsalud.org)
Genomic14
  • 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)
  • We integrated chromosome 5 genomic copy number and gene expression data to identify key target over expressed genes as a consequence of 5p gain. (columbia.edu)
  • Array-comparative genomic hybridization (array-CGH) was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. (biomedcentral.com)
  • Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)
  • 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)
  • Loss of heterozygosity (LOH) and in silico expression analysis were applied to identify genes significantly downregulated in breast cancer within the genomic interval 6q23-25. (mdc-berlin.de)
  • Systematic comparison of candidate EST sequences with genomic sequences from this interval revealed the genomic structure of a potential target gene on 6q24.3, which we called SAM and SH3 domain containing 1 (SASH1). (mdc-berlin.de)
  • This was in line with WGS and Cap-seq results, revealing variable breakpoints in chromosomes 1 and 10 and genomic breakpoints that should not yield functional fusion transcripts. (mendeley.com)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • and an ectopic insertion into the VH from chromosome I. The results support the proposal that aberrant antibody hypermutation can lead to gross genomic alterations but indicate that such events are rare. (lu.se)
  • Of the 379 genomic clinical guidelines in PHGKB as of January 20 2020 that have a specific recommendation for use in practice , 181 (48%) are relevant to cancer. (cdc.gov)
  • More importantly, of the total 163 guidelines that have a tier 1 genomic application (recommended for use in practice based on an evidence-based recommendation), 100 (61%) are relevant to cancer treatment and prevention. (cdc.gov)
Tumors14
  • In this study 22 genes were analyzed by MLPA in tumors and matched normal tissue samples from 82 patients with non-small cell lung cancer. (jcancer.org)
  • The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
  • Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)
  • This is COOL SCIENCE: Cristae inside mitochondria (purple) align themselves to keep "feeding" certain lung cancer tumors. (cancer.org)
  • Conversely, iAP mice engineered with a Kdm5d transgene to provide constitutive Kdm5d expression specifically in iAP cancer cells exhibited an increased propensity for more invasive tumors in vivo . (tmc.edu)
  • a breakpoint in or near TGFBR3 in chromosome 1 was found in four of these tumors. (mendeley.com)
  • In primary tumors, such as colon and breast cancers, overexpression of RON exists in a large number of cases and is often accompanied by the generation of different splicing variants ( 12 - 14 ). (spandidos-publications.com)
  • The risk for ovarian tumors and skin cancer is increased with basal cell nevus syndrome (also called Gorlin syndrome or nevoid basal cell carcinoma), a rare autosomal dominant cancer genetic syndrome. (hopkinsmedicine.org)
  • If you have a family history of cancers, discuss this with your healthcare provider and ask if you should be screened for a familial cancer syndrome and screened for the development of certain tumors. (hopkinsmedicine.org)
  • Subsequently, these two tumors have been grouped into a class of cancers entitled Ewing's Sarcoma Family of Tumor (ESFT), all of which demonstrate this translocation. (sarcomahelp.org)
  • The incidence of adrenocortical tumors in children is extremely low (only 0.2% of pediatric cancers). (oncolink.org)
  • In the non-Brazilian cases, relatives of children with adrenocortical tumors often, although not invariably, have a high incidence of nonadrenal cancers (Li-Fraumeni syndrome). (oncolink.org)
  • Disruption of the centrosome is common in many solid tumors including lung cancer. (cdc.gov)
  • Cancer is a primary focus of the PMI, with the launch of the MATCH trial (Molecular Analysis for Therapy CHoice), a precision medicine cancer treatment clinical trial in which treatment is based in genetic changes found in patients' tumors. (cdc.gov)
Aberrations9
  • The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, genes, and cancer. (wikipedia.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 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)
  • Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
  • Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)
  • 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)
  • 31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)
  • The 10 cases contained altogether 16 aberrations, with sizes ranging from 1.3 to 20.5 Mb, and they were located on 15 different chromosome arms. (bmj.com)
Genetic23
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Functional redundancy shared by paralog genes may afford protection against genetic perturbations, but it can also result in genetic vulnerabilities due to mutual interdependency 1-5 . (nih.gov)
  • MAGOHB is the top gene dependency in cells with hemizygous MAGOH deletion, a pervasive genetic event that frequently occurs due to chromosome 1p loss. (nih.gov)
  • It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to genetic changes in the NF1 gene that result from loss of mismatch repair. (medlineplus.gov)
  • This book examines the principles underlying genetic predisposition to cancer and will be relevant to practising oncologists, geneticists and other professionals interested in this rapidly expanding field. (taylorfrancis.com)
  • Recent molecular genetic analyses of astrocytomas have demonstrated frequent chromosome 17 deletions involving the telomeric region of the short arm (17p12-pter). (nih.gov)
  • Genetic engineering has been used to clone this growth hormone gene, which has enabled the production of growth hormone used in the treatment of pituitary dwarfism. (pearson.com)
  • Sex exerts a profound impact on cancer incidence, spectrum and outcomes, yet the molecular genetic bases of such sex differences are ill-defined and presumptively ascribed to X-chromosome genes and sex hormones. (tmc.edu)
  • The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 (where the FUS gene is located) and other chromosomes. (medlineplus.gov)
  • Myxoinflammatory fibroblastic sarcoma (MIFS) has recurrent genetic features in the form of a translocation t(1;10)(p22-31;q24-25), BRAF gene fusions, and/or an amplicon in 3p11-12 including the VGLL3 gene. (mendeley.com)
  • Gene Therapy covers both the research and clinical applications of novel therapeutic techniques based on a genetic component. (feedspot.com)
  • For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. (cdc.gov)
  • Single gene testing is also used when there is a known genetic mutation in a family. (cdc.gov)
  • A panel genetic test looks for changes in many genes in one test. (cdc.gov)
  • Panel genetic tests can also be grouped into genes that are all associated with higher risk of developing certain kinds of cancer, like breast or colorectal (colon) cancer . (cdc.gov)
  • Genome sequencing is the largest genetic test and looks at all of a person's DNA, not just the genes. (cdc.gov)
  • Examples of secondary findings are genes associated with a predisposition to cancer or rare heart conditions when you were looking for a genetic diagnosis to explain a child's developmental disabilities. (cdc.gov)
  • Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. (sarcomahelp.org)
  • Many genetic and environmental factors increase the risk of developing cancer. (msdmanuals.com)
  • Environmental factors-common to the family-may alter this genetic interaction and cause cancer. (msdmanuals.com)
  • Drugs such as imatinib (Gleevec) and venetoclax can treat cancers caused by specific genetic changes. (cdc.gov)
  • On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans. (cdc.gov)
  • Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience. (cdc.gov)
Molecular10
  • Identification of 5p gene targets in CC denotes an important step towards biomarker development and forms a framework for testing as molecular therapeutic targets. (columbia.edu)
  • Background: The molecular events leading to the development of ovarian cancer are not well-established. (iiarjournals.org)
  • The molecular events leading to the development of ovarian cancer and the molecular factors that may predict response to treatment are not well-established. (iiarjournals.org)
  • There are few studies focusing on the molecular analysis of p16 gene in ovarian cancer ( 13 - 16 ). (iiarjournals.org)
  • However, these are rare large-scale attempts to identify the molecular characteristics of lung cancer between Asian and Caucasian. (biomedcentral.com)
  • Integrated cross-species molecular and transcriptomic analyses identified Y-chromosome gene histone demethylase KDM5D as a transcriptionally up-regulated gene driven by KRAS*-mediated activation of the STAT4 transcription factor in cancer cells. (tmc.edu)
  • An unexpectedly large number of non-oncology drugs selectively inhibited subsets of cancer cell lines in a manner predictable from the molecular features of the cell lines. (nature.com)
  • The Spanish S ... ociety for Biochemistry and Molecular Biology (SEBBM) is affiliated with Genes and their members receive discounts on the article processing charges. (feedspot.com)
  • Asimakopoulos FA, White NJ, Nacheva E, Green AR: Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. (karger.com)
  • Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
Translocations5
  • Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • Translocations that fuse the PDGFRB gene with other genes can also cause PDGFRB -associated chronic eosinophilic leukemia, but these translocations are relatively uncommon. (medlineplus.gov)
  • These translocations are acquired during a person's lifetime and are present only in cancer cells. (medlineplus.gov)
  • 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)
  • These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene on a different chromosome, creating a fusion gene. (medlineplus.gov)
Deletions2
  • The frequency of deletions were much lower and the most frequently deleted gene was ADAM9. (jcancer.org)
  • Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining. (lu.se)
Deletion7
  • In all cases, the p16 gene deletion was observed. (iiarjournals.org)
  • Among them, 25 cases presented deletion of p16 gene in 21.43%-86.3% of the examined cells. (iiarjournals.org)
  • In five cases with p16 gene deletion, homozygous deletion was detected. (iiarjournals.org)
  • Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)
  • Among the methods used for cytogenetic evaluation was the FISH technique for p16 gene deletion. (iiarjournals.org)
  • Our results identify MAGOH and MAGOHB as reciprocal paralog dependencies across cancer types and suggest a rationale for targeting the MAGOHB-IPO13 axis in cancers with chromosome 1p deletion. (nih.gov)
  • Deletion of Kdm5d in iKAP cancer cells increased tight junction integrity, decreased cell invasiveness, and enhanced cancer cell killing by CD8+ T cells. (tmc.edu)
Genetics1
  • 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)
Progression8
  • Gain of short arm of chromosome 5 (5p) is the most frequent karyotypic change in CC. Methods: To examine the role of 5p gain, we performed a combination of single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and gene expression analyses on invasive cancer and in various stages of CC progression. (columbia.edu)
  • As a result, it negatively regulates cyclin-D-dependent phosphorylation of the retinoblastoma (pRb) gene product, thus blocking cell-cycle progression from G 1 -to S-phase ( 2 - 4 ). (iiarjournals.org)
  • Large-scale cDNA transfection screening for genes related to cancer development and progression. (nih.gov)
  • Polymorphisms in the transforming growth factor beta 1 pathway in relation to colorectal cancer progression. (bvsalud.org)
  • Grants classified within the biology field of interest focus on understanding the development, progression, and metastasis (spread) of pancreatic cancer. (pancan.org)
  • Recent studies have indicated that altered RON expression contributes significantly to cancer progression and malignancy. (spandidos-publications.com)
  • The resulting aneuploidy is an early event in the progression of many cancers, suggesting that it may play a role in both tumorigenesis and tumor progression. (cdc.gov)
  • The fairly high rate of progression to muscle-invasive disease (30%) in patients with high-risk NMIBC require more frequent monitoring by urine cytology and cystoscopy, the gold standard for detection of bladder cancer recurrence. (medscape.com)
Oncogenes4
  • Such a segment in the tumor genome may harbor either oncogenes or tumor suppressor genes depending on whether they are present in increased or decreased copy number, respectively. (biomedcentral.com)
  • Proto-oncogenes are genes that normally help cells grow and divide to make new cells, or to help cells stay alive. (cancer.org)
  • Oncogenes are mutated or amplified forms of genes that in their normal state regulate cell growth. (msdmanuals.com)
  • Some oncogenes inappropriately signal cells to multiply in an uncontrolled manner, leading to a cancer. (msdmanuals.com)
Alterations8
  • Chromosome 8 was found to harbor the most frequent copy number alterations. (jcancer.org)
  • Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
  • Patients with alterations in this gene can experience a progressive visual loss with onset of night blindness between 4 and 10 years of age. (pearson.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)
  • Gene dose alterations can cause mental retardation (MR), congenital malformations and miscarriages. (bmj.com)
  • Screening for chromosomal imbalances by array CGH, whether using cDNA 23 or BAC clones, 24 has mainly been performed on cancer samples, 25- 30 which usually contain large gene dose alterations. (bmj.com)
  • Although array CGH has provided a higher resolution compared to conventional CGH, it has not yet become a widely applied method for the analysis of gene dose alterations in individuals with idiopathic mental retardation. (bmj.com)
  • 10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
Genomics3
  • 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)
  • In 2016, we documented that the clinical and public health translational action in genomics was clearly ahead for cancer compared with other common diseases, as evidenced by the greater number of epidemiological and clinical studies, evidence-based guidelines and implementation programs. (cdc.gov)
  • Cancer genomics can inform both prevention and treatment and could serve as a model for other health conditions. (cdc.gov)
Colorectal cancer6
  • Individuals with CMMRD syndrome are at increased risk of developing cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma). (medlineplus.gov)
  • Lynch syndrome increases the risk of many types of cancer, particularly colorectal cancer. (medlineplus.gov)
  • Transforming growth factor beta1 (TGFB1) acts as a growth inhibitor of normal colonic epithelial cells , however, as a tumor promoter of colorectal cancer (CRC) cells . (bvsalud.org)
  • Such sex differences are particularly prominent in colorectal cancer (CRC) where men experience higher metastases and mortality. (tmc.edu)
  • 2010: (CMRF and Genesis Oncology Trust (Bruce Blue Award)) Chemotherapy response in an obese mouse model with colorectal cancer. (otago.ac.nz)
  • Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). (cancerindex.org)
Skip1
Genome5
  • Here, we surveyed genome-scale short hairpin RNA and CRISPR screening data on hundreds of cancer cell lines and identified MAGOH and MAGOHB, core members of the splicing-dependent exon junction complex, as top-ranked paralog dependencies 6-8 . (nih.gov)
  • The Human Genome Project: Genes on Human Chromosome 17 The location of genes is designated by an established labeling system for chromosomes. (pearson.com)
  • 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)
  • International Cancer Genome Consortium. (cancerindex.org)
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
Abnormalities3
  • Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)
  • Mitelman F. Cancer: Chromosomal Abnormalities. (lu.se)
  • Chromosome abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
20233
  • 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)
  • Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond. (cdc.gov)
Somatic3
  • These changes are present only in certain cells (somatic variants), whereas NF1 gene variants that are present in all cells of the body cause neurofibromatosis type 1. (medlineplus.gov)
  • The antigen receptor loci are the only loci in humans to undergo programmed somatic gene modification. (lu.se)
  • To characterize the types of by-products of somatic hypermutation, we analyzed aberrant rearrangements involving the immunoglobulin loci in a human B-cell line (Ramos) that performs Ig V gene hypermutation constitutively during culture. (lu.se)
Ovarian9
  • Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis. (iiarjournals.org)
  • Ovarian cancer is one of the leading causes of death from gynaecological malignancies worldwide. (iiarjournals.org)
  • De-regulation of cell-cycle control, in particular G 1 - to S-phase transition, is implicated in the pathogenesis of most types of human cancer, including ovarian cancer ( 1 ). (iiarjournals.org)
  • Twenty-eight cases of patients who had undergone surgical resection of ovarian cancer between the years 2005 to 2009 were included in the present study. (iiarjournals.org)
  • Background: Vestigial like family member 3 (VGLL3) is associated with the prognosis of epithelial ovarian cancer and soft tissue sarcoma, but its role in gastric cancer (GC) is unclear. (researchgate.net)
  • If it is in the ovary, then ovarian cancer may develop. (hopkinsmedicine.org)
  • Circulating microRNAs for Early Diagnosis of Ovarian Cancer: A Systematic Review and Meta-Analysis. (cdc.gov)
  • Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis. (cdc.gov)
  • Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members. (cdc.gov)
Lung11
  • Baykara O, Bakir B, Buyru N, Kaynak K, Dalay N. Amplification of Chromosome 8 Genes in Lung Cancer. (jcancer.org)
  • Although gains and losses of chromosomal loci have been reported copy number changes of the individual genes have not been analyzed in lung cancer. (jcancer.org)
  • Amplification of the ZNF703, PRDM14 and MYC genes were highly correlated suggesting that the genes displaying high copy number changes on chromosome 8 collaborate during lung carcinogenesis. (jcancer.org)
  • A number of studies have shown that p16/CDKN2A is frequently altered in melanoma ( 9 ), pancreatic ( 10 ), urinary bladder ( 11 ) and lung cancer ( 12 ). (iiarjournals.org)
  • Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. (biomedcentral.com)
  • We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. (biomedcentral.com)
  • In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. (biomedcentral.com)
  • Our study provides an invaluable database revealing common and differential imbalance regions at specific chromosomes among Asian and Caucasian lung cancer patients. (biomedcentral.com)
  • There is mounting evidence of difference between Asian and Caucasian lung cancer patients in clinical and epidemiological aspects. (biomedcentral.com)
  • Therefore, identification and characterization of the chromosome regions with DNA copy number alteration in Western and Asian countries is important to unravel the mechanism underlying lung tumorigenesis. (biomedcentral.com)
  • Lung Cancer Lung cancer is the leading cause of cancer death in both men and women. (msdmanuals.com)
Oncogene2
  • Some people have differences in the 'code' of their genes that can cause an oncogene to be turned on all the time. (cancer.org)
  • Oncogene is one of the world's leading cancer journals. (feedspot.com)
Expression10
  • We therefore hypothesize that other mechanisms as for instance methylation of the promoter region of SASH1 are responsible for the loss of expression of SASH1 in primary and metastatic breast cancer. (mdc-berlin.de)
  • RNA-seq data have been deposited with the Gene Expression Omnibus (accession number GSE133299 ). (nature.com)
  • Expression of this gene is induced by TGFBR1. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Model based on GA and DNN for prediction of mRNA-Smad7 expression regulated by miRNAs in breast cancer. (cancerindex.org)
  • Mechanistically, NGF could upregulate TDE-miR-21-5p levels, and DRG cells took up TDE to activate the Warburg effect and stimulate nociceptor gene expression. (hindawi.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • The relationship between the expression of RON and prognosis was found to vary in different cancer types, even in the same cancer from different databases. (spandidos-publications.com)
  • In addition, the use of gene expression profiling in breast cancer management has matured in the past few years propelled by the results of a prospective clinical trial . (cdc.gov)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
Humans2
Candidate tumor supp1
  • This region contains a candidate tumor suppressor gene, TP53, which has recently been implicated in the etiology of a broad array of human cancers. (nih.gov)
Fusions2
  • Mitelman F. Cancer gene fusions detected by massive parallel sequencing. (lu.se)
  • Mertens F, Johansson B, Fioretos T, Mitelman F. The emerging complexity of gene fusions in cancer. (lu.se)
Cells19
  • Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
  • When the ETV6 - PDGFRB fusion gene mutation occurs in cells that develop into blood cells, the growth of eosinophils (and occasionally other white blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • Cancer begins when cells in the body become abnormal and start to grow out of control. (cancer.org)
  • The protein encoded by this gene is one of a family of related proteins that transports glucose into cells by facilitated diffusion. (pearson.com)
  • This gene, MPO, located at 17q23.1, encodes an enzyme that is found in white blood cells and increases the ability of these cells to kill microorganisms. (pearson.com)
  • Thus, upregulation of Y chromosome KDM5D in cancer cells and immune cells collaboratively contributes to the sex differences in CRC via its disruption of cancer cell adhesion properties and regulation of tumor immunity, providing an actionable therapeutic strategy for metastasis risk reduction for men afflicted with KRAS* CRC. (tmc.edu)
  • There is emerging evidence indicating that the PcG complexes are indispensable for sustaining stem cell activity and cancer stem cells. (karger.com)
  • Genes are expressed, or turned on, at different levels in different types of cells. (cdc.gov)
  • Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye. (cancer.gov)
  • Intraocular melanoma is a rare cancer that forms from cells that make melanin in the iris, ciliary body, and choroid. (cancer.gov)
  • They look blue to a pathologist because of the staining that is used when identifying the cancer, so the cells are referred to as 'small round blue cells. (sarcomahelp.org)
  • On the other hand, the infiltration of organs by a monoclonal population of aberrant cells, the possibility of lethal evolution, and the cancer-based modalities of successful treatment are all consistent with a neoplastic process. (medscape.com)
  • Overview of Cancer A cancer is an abnormal growth of cells (usually derived from a single abnormal cell). (msdmanuals.com)
  • Breast Cancer Breast cancer occurs when cells in the breast become abnormal and divide into more cells uncontrollably. (msdmanuals.com)
  • Tumor suppressor genes normally suppress the development of cancers by coding for proteins that repair damaged DNA or suppress the growth of cancerous cells. (msdmanuals.com)
  • Cancer is more likely when DNA damage impairs tumor suppressor gene function, allowing affected cells to multiply continuously. (msdmanuals.com)
20191
Https2
  • The PRISM Repurposing dataset, including screening data and all metadata, is available at the Cancer Dependency Map portal ( https://depmap.org/repurposing ). (nature.com)
  • Raw and processed PRISM viability data are available from the Cancer Dependency Map portal ( https://depmap.org/repurposing ) and have been archived via figshare ( https://doi.org/10.6084/m9.figshare.9393293 ). (nature.com)
Cellular1
  • The errors disrupt other genes involved in important cellular processes, such as controlling cell growth and division (proliferation). (medlineplus.gov)
Proteins5
  • Chromosome 12 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
  • The protein produced from the ETV6 - PDGFRB fusion gene, called ETV6/PDGFRβ, functions differently than the proteins normally produced from the individual genes. (medlineplus.gov)
  • This region of the chromosome has a cluster of genes that encode the hard proteins, which are involved in the formation of hair and nails. (pearson.com)
  • The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. (medlineplus.gov)
  • These genes produce proteins that regulate growth and alter cell division and other basic cell properties. (msdmanuals.com)
Variants8
  • PMS2 gene variants are the most frequent cause of this condition. (medlineplus.gov)
  • Individuals with CMMRD syndrome inherit two PMS2 gene variants, one from each parent, while people with Lynch syndrome (described below) have a variant in one copy of the PMS2 gene. (medlineplus.gov)
  • PMS2 gene variants result in near or complete loss of PMS2 protein production. (medlineplus.gov)
  • Variants in the PMS2 gene have been reported in about 6 percent of families with Lynch syndrome that have an identified gene alteration. (medlineplus.gov)
  • These variants lead to a form of Lynch syndrome with a lower risk of cancer development compared to other causes of this condition. (medlineplus.gov)
  • PMS2 gene variants involved in this condition lead to the production of an abnormally short or inactive PMS2 protein from one copy of the gene. (medlineplus.gov)
  • Several transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
Nucleus2
  • One of the candidates identified was Drosha (RNASEN), a gene that is required in the first step of microRNA (miRNA) processing in the nucleus. (columbia.edu)
  • The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. (medlineplus.gov)
Breakpoints1
Germline2
Abstract1
  • abstract = "Prostate cancer linkage studies have suggested the existence of a prostate cancer susceptibility gene on chromosome 17q21-22. (johnshopkins.edu)
20161
TP532
  • The gene TP53 is located at 17p13.1. (pearson.com)
  • In the Brazilian cases, the patients' families do not exhibit a high incidence of cancer, and a single, unique mutation at codon 337 in exon 10 of the TP53 gene is consistently observed. (oncolink.org)
Genomes2
  • Background: Copy number gains and amplifications are characteristic feature of cervical cancer (CC) genomes for which the underlying mechanisms are unclear. (columbia.edu)
  • Here, we identified RON genes from 14 vertebrate genomes and found that RON exists in all types of vertebrates including fish, amphibians, birds and mammals. (spandidos-publications.com)
Fusion gene1
  • Apart from a ROBO1-BRAF chimera in a t(1;10)-negative MIFS-like tumor, no fusion gene was found at RNA-seq. (mendeley.com)
Occur3
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • These cancers usually first occur in childhood, with the vast majority of cancers in CMMRD syndrome diagnosed in people under the age of 18. (medlineplus.gov)
  • Additionally, in people with a PMS2 gene variant, cancer tends to occur at a later age compared to others with Lynch syndrome. (medlineplus.gov)
Rearrangements2
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
Human10
  • Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. (nih.gov)
  • Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. (nih.gov)
  • Here is a drawing of human chromosome 17 showing its characteristic major banding pattern as it appears after staining. (pearson.com)
  • 388 genes have been identified on human chromosome 17. (pearson.com)
  • We sought to create a public resource containing the growth-inhibitory activity of 4,518 drugs tested across 578 human cancer cell lines. (nature.com)
  • Fig. 2: Drug response landscape of human cancer cell lines. (nature.com)
  • Pancreatic cancer (PC) is a relatively common malignancy of the digestive system and one of the human malignancies with the worst prognosis [ 1 ]. (hindawi.com)
  • The human RON gene was originally cloned from keratinocytes ( 1 ). (spandidos-publications.com)
  • Conserved transcription factor-binding sites within promoter regions of human RON genes were then searched. (spandidos-publications.com)
  • Designing a Dyad-Based Digital Health Intervention to Reduce Sedentary Time in Black Breast Cancer Survivors and Their First-degree Relatives: Human-Centered Design Study. (cdc.gov)
Several genes2
  • The gene RP13 is located at 17p13.3, and is one of several genes that affect eye development. (pearson.com)
  • Sometimes the increased risk is due to a single gene and sometimes it is due to several genes interacting together. (msdmanuals.com)
Certain cancers1
  • Some families have a significantly higher risk of developing certain cancers. (msdmanuals.com)
19992
Colon1
  • 3: Mörner M, Gunnarsson U, Jestin P, Egenvall M. Volume of blood loss during surgery for colon cancer is a risk determinant for future small bowel obstruction caused by recurrence--a population-based epidemiological study. (cancercentrum.se)
Abnormal2
  • Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
  • In some families, these abnormal cancer-causing genes are inherited. (msdmanuals.com)
Clinical3
  • In this study, we performed IgH HTS on the diagnostic bone marrow of 105 children treated between 2004 and 2008 in Belgium for BCP-ALL in the European Organization for Research and Treatment of Cancer (EORTC)-58951 clinical trial. (frontiersin.org)
  • In the fight against pancreatic cancer, clinical trials often provide the best treatment options. (pancan.org)
  • Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes that are related to medical conditions (clinical exome). (cdc.gov)
Tumorigenesis1
  • We assume that SASH1 is a new tumor suppressor gene possibly involved in tumorigenesis of breast and other solid cancers. (mdc-berlin.de)
Diagnosis3
  • The importance of correct diagnosis of cutaneous leiomyoma lies in the association of multiple cutaneous leiomyomas with uterine fibroids and papillary renal cell carcinoma in what is known as Reed syndrome, or hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant disorder. (medscape.com)
  • We can connect you with trained cancer information specialists who will answer questions about a cancer diagnosis and provide guidance and a compassionate ear. (cancer.org)
  • A novel subset analysis of only those families (n = 147) that had four or more prostate cancer cases and an average age of prostate cancer diagnosis ≤ 65 years results in a maximum LOD score of 5.49 at 78 cM with a 1-LOD support interval of 10 cM. (johnshopkins.edu)
Mutation4
  • 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 example, if the second mutation is in the skin, then skin cancer may develop. (hopkinsmedicine.org)
  • This is because they never get the second mutation necessary to knock out the function of the gene and start the process of tumor formation. (hopkinsmedicine.org)
  • People with a PTCH1 mutation, regardless of whether they develop cancer, have a 50/50 chance to pass the mutation on to each of their children. (hopkinsmedicine.org)
Oncology3
  • Among other things, Dr. Ewing 'laid the foundations of what is now known as the Memorial Sloan-Kettering Cancer Centre, building up a strong team of physicians who later distinguished themselves in the various specialties of oncology. (sarcomahelp.org)
  • Precision oncology has had some major successes… And yet, the overall effect of precision medicine on care for patients with cancer has been modest. (cdc.gov)
  • Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database. (cancercentrum.se)
Syndrome9
  • Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • If cell growth is uncontrolled, it can lead to childhood cancer in people with CMMRD syndrome. (medlineplus.gov)
  • People with Lynch syndrome also have an increased risk of cancers of the endometrium (lining of the uterus), ovaries, stomach, small intestine, liver, gallbladder ducts, upper urinary tract, and brain. (medlineplus.gov)
  • Because there is some functional PMS2 protein produced from the normal copy of the gene, mismatch repair activity in Lynch syndrome is reduced but not absent, as it is in CMMRD syndrome (described above). (medlineplus.gov)
  • This difference in DNA repair activity levels likely explains why cancers in Lynch syndrome generally develop in adulthood while those in CMMRD syndrome often affect children. (medlineplus.gov)
  • Single gene testing is done when your doctor believes you or your child have symptoms of a specific condition or syndrome. (cdc.gov)
  • Familial cancer syndromes such as Li-Fraumeni syndrome, constitutional mismatch repair deficiency syndrome, or DNA repair syndromes (e.g. (haematologica.org)
  • Basal cell nevus syndrome is caused by changes in a tumor suppressor gene, called PTCH1. (hopkinsmedicine.org)
  • It is also important to remember that the gene responsible for basal cell nevus syndrome is not located on the sex chromosomes. (hopkinsmedicine.org)
Chromosomal region2
  • In particular, the p16/cyclin-dependent kinase inhibitor 2A (CDKN2A) gene located on chromosomal region 9p21 frequently is altered in several types of cancer. (iiarjournals.org)
  • The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
Pathways3
  • The ETV6 protein normally turns off (represses) gene activity and the PDGFRβ protein plays a role in turning on (activating) signaling pathways. (medlineplus.gov)
  • The ETV6/PDGFRβ protein is always turned on, activating signaling pathways and gene activity. (medlineplus.gov)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
Sequences1
  • Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. (nih.gov)
Patients6
  • We connect patients, caregivers, and family members with essential services and resources at every step of their cancer journey. (cancer.org)
  • The Smad7 protein is negative regulator of the TGF-β signaling pathway, which is upregulated in patients with breast cancer. (cancerindex.org)
  • Perform the first surveillance cystoscopy within 3 to 4 months after completion of the initial evaluation and treatment of patients with non-muscle-invasive bladder cancer (NMIBC). (medscape.com)
  • Imatinib has a 95% response rate in patients with chronic myeloid leukemia (caused by a chromosomal rearrangement called the Philadelphia chromosome) and extends quality-adjusted life . (cdc.gov)
  • A recent study estimated that about 8% of patients with cancer are eligible for precision medications and 5% would actually benefit from them. (cdc.gov)
  • Cost-Effectiveness Analysis of MammaPrint to Guide the Use of Endocrine Therapy in Patients with Early-Stage Breast Cancer. (cdc.gov)
Suppressor3
  • Tumor suppressor genes usually control cell growth and cell death. (hopkinsmedicine.org)
  • Every person is born with two copies of each tumor suppressor gene, one inherited from his or her mother and one from his or her father. (hopkinsmedicine.org)
  • Both copies of a tumor suppressor gene must be altered, or mutated, before a person may develop cancer. (hopkinsmedicine.org)