Array CGH and gene-expression profiling reveals distinct genomic instability patterns associated with DNA repair and cell-cycle checkpoint pathways in Ewing's ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-10-22

AUTHORS

B I Ferreira, J Alonso, J Carrillo, F Acquadro, C Largo, J Suela, M R Teixeira, N Cerveira, A Molares, G Goméz-López, Á Pestaña, A Sastre, P Garcia-Miguel, J C Cigudosa

ABSTRACT

Ewing's sarcoma (ES) is characterized by specific chromosome translocations, the most common being t(11;22)(q24;q12). Additionally, other type of genetic abnormalities may occur and be relevant for explaining the variable tumour biology and clinical outcome. We have carried out a high-resolution array CGH and expression profiling on 25 ES tumour samples to characterize the DNA copy number aberrations (CNA) occurring in these tumours and determine their association with gene-expression profiles and clinical outcome. CNA were observed in 84% of the cases. We observed a median number of three aberrations per case. Besides numerical chromosome changes, smaller aberrations were found and defined at chromosomes 5p, 7q and 9p. All CNA were compiled to define the smallest overlapping regions of imbalance (SORI). A total of 35 SORI were delimited. Bioinformatics analyses were conducted to identify subgroups according to the pattern of genomic instability. Unsupervised and supervised clustering analysis (using SORI as variables) segregated the tumours in two distinct groups: one genomically stable (⩽3 CNA) and other genomically unstable (>3 CNA). The genomic unstable group showed a statistically significant shorter overall survival and was more refractory to chemotherapy. Expression profile analysis revealed significant differences between both groups. Genes related with chromosome segregation, DNA repair pathways and cell-cycle control were upregulated in the genomically unstable group. This report elucidates, for the first time, data about genomic instability in ES, based on CNA and expression profiling, and shows that a genomically unstable group of Ewing's tumours is correlated with a significant poor prognosis. More... »

PAGES

2084-2090

Journal

TITLE

Oncogene

ISSUE

14

VOLUME

27

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.onc.1210845

DOI

http://dx.doi.org/10.1038/sj.onc.1210845

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025623018

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17952124


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1112", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Oncology and Carcinogenesis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Bone Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Repair", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Profiling", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genomic Instability", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oligonucleotide Array Sequence Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prognosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sarcoma, Ewing", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ferreira", 
        "givenName": "B I", 
        "id": "sg:person.01101113651.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101113651.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alonso", 
        "givenName": "J", 
        "id": "sg:person.012571320022.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571320022.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Carrillo", 
        "givenName": "J", 
        "id": "sg:person.0602115304.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602115304.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Acquadro", 
        "givenName": "F", 
        "id": "sg:person.01147144220.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01147144220.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Largo", 
        "givenName": "C", 
        "id": "sg:person.01136311241.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136311241.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Suela", 
        "givenName": "J", 
        "id": "sg:person.0767025511.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767025511.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal", 
          "id": "http://www.grid.ac/institutes/grid.418711.a", 
          "name": [
            "Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Teixeira", 
        "givenName": "M R", 
        "id": "sg:person.0765377607.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765377607.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal", 
          "id": "http://www.grid.ac/institutes/grid.418711.a", 
          "name": [
            "Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cerveira", 
        "givenName": "N", 
        "id": "sg:person.01012771330.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012771330.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fundaci\u00f3n Biom\u00e9dica del CHUVI, Hospital do Rebull\u00f3n, Vigo, Pontevedra, Spain", 
          "id": "http://www.grid.ac/institutes/grid.411855.c", 
          "name": [
            "Fundaci\u00f3n Biom\u00e9dica del CHUVI, Hospital do Rebull\u00f3n, Vigo, Pontevedra, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Molares", 
        "givenName": "A", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Unidad de Bioinform\u00e1tica, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Fundaci\u00f3n Biom\u00e9dica del CHUVI, Hospital do Rebull\u00f3n, Vigo, Pontevedra, Spain", 
            "Unidad de Bioinform\u00e1tica, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gom\u00e9z-L\u00f3pez", 
        "givenName": "G", 
        "id": "sg:person.0700636421.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700636421.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.4711.3", 
          "name": [
            "Departamento de Biolog\u00eda Molecular y Celular del C\u00e1ncer, Instituto de Investigaciones Biom\u00e9dicas \u2018A. Sols\u2019 (CSIC-UAM), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pesta\u00f1a", 
        "givenName": "\u00c1", 
        "id": "sg:person.01257537002.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257537002.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Unidad Oncohematolog\u00eda Infantil, Hospital Infantil La Paz, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.81821.32", 
          "name": [
            "Unidad Oncohematolog\u00eda Infantil, Hospital Infantil La Paz, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sastre", 
        "givenName": "A", 
        "id": "sg:person.010652500611.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010652500611.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Unidad Oncohematolog\u00eda Infantil, Hospital Infantil La Paz, Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.81821.32", 
          "name": [
            "Unidad Oncohematolog\u00eda Infantil, Hospital Infantil La Paz, Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garcia-Miguel", 
        "givenName": "P", 
        "id": "sg:person.01176025111.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176025111.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain", 
          "id": "http://www.grid.ac/institutes/grid.7719.8", 
          "name": [
            "Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cigudosa", 
        "givenName": "J C", 
        "id": "sg:person.01246512175.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246512175.01"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/sj.onc.1208060", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001915129", 
          "https://doi.org/10.1038/sj.onc.1208060"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/89044", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002292014", 
          "https://doi.org/10.1038/89044"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/bjc.1997.242", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008000905", 
          "https://doi.org/10.1038/bjc.1997.242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/359162a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008302153", 
          "https://doi.org/10.1038/359162a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.bjc.6600332", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048032216", 
          "https://doi.org/10.1038/sj.bjc.6600332"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2105-6-309", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030703847", 
          "https://doi.org/10.1186/1471-2105-6-309"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2007-10-22", 
    "datePublishedReg": "2007-10-22", 
    "description": "Ewing's sarcoma (ES) is characterized by specific chromosome translocations, the most common being t(11;22)(q24;q12). Additionally, other type of genetic abnormalities may occur and be relevant for explaining the variable tumour biology and clinical outcome. We have carried out a high-resolution array CGH and expression profiling on 25 ES tumour samples to characterize the DNA copy number aberrations (CNA) occurring in these tumours and determine their association with gene-expression profiles and clinical outcome. CNA were observed in 84% of the cases. We observed a median number of three aberrations per case. Besides numerical chromosome changes, smaller aberrations were found and defined at chromosomes 5p, 7q and 9p. All CNA were compiled to define the smallest overlapping regions of imbalance (SORI). A total of 35 SORI were delimited. Bioinformatics analyses were conducted to identify subgroups according to the pattern of genomic instability. Unsupervised and supervised clustering analysis (using SORI as variables) segregated the tumours in two distinct groups: one genomically stable (\u2a7d3 CNA) and other genomically unstable (>3 CNA). The genomic unstable group showed a statistically significant shorter overall survival and was more refractory to chemotherapy. Expression profile analysis revealed significant differences between both groups. Genes related with chromosome segregation, DNA repair pathways and cell-cycle control were upregulated in the genomically unstable group. This report elucidates, for the first time, data about genomic instability in ES, based on CNA and expression profiling, and shows that a genomically unstable group of Ewing's tumours is correlated with a significant poor prognosis.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/sj.onc.1210845", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1097543", 
        "issn": [
          "0950-9232", 
          "1476-5594"
        ], 
        "name": "Oncogene", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "14", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "27"
      }
    ], 
    "keywords": [
      "copy number aberrations", 
      "cell-cycle checkpoint pathways", 
      "genomic instability", 
      "cell-cycle control", 
      "genomic instability patterns", 
      "DNA repair pathways", 
      "expression profile analysis", 
      "gene-expression profiles", 
      "gene-expression profiling", 
      "ES tumor samples", 
      "array CGH", 
      "numerical chromosome changes", 
      "chromosome segregation", 
      "DNA copy number aberrations", 
      "high-resolution array CGH", 
      "checkpoint pathway", 
      "DNA repair", 
      "repair pathways", 
      "bioinformatics analysis", 
      "specific chromosome translocations", 
      "expression profiling", 
      "regions of imbalance", 
      "chromosome 5p", 
      "chromosome translocation", 
      "chromosome changes", 
      "number aberrations", 
      "distinct groups", 
      "profiling", 
      "pathway", 
      "genetic abnormalities", 
      "tumor biology", 
      "CGH", 
      "tumor samples", 
      "genes", 
      "aberrations", 
      "variable tumor biology", 
      "biology", 
      "translocation", 
      "small aberrations", 
      "profile analysis", 
      "first time", 
      "expression", 
      "Ewing tumors", 
      "Ewing's sarcoma", 
      "segregation", 
      "patterns", 
      "repair", 
      "analysis", 
      "region", 
      "survival", 
      "significant shorter overall survival", 
      "tumors", 
      "imbalance", 
      "changes", 
      "profile", 
      "shorter overall survival", 
      "poor prognosis", 
      "types", 
      "association", 
      "number", 
      "instability", 
      "group", 
      "control", 
      "sarcoma", 
      "differences", 
      "abnormalities", 
      "significant poorer prognosis", 
      "significant differences", 
      "SORI", 
      "data", 
      "total", 
      "unstable group", 
      "report", 
      "samples", 
      "time", 
      "subgroups", 
      "prognosis", 
      "instability patterns", 
      "cases", 
      "chemotherapy", 
      "clinical outcomes", 
      "overall survival", 
      "outcomes", 
      "median number", 
      "genomic unstable group", 
      "distinct genomic instability patterns"
    ], 
    "name": "Array CGH and gene-expression profiling reveals distinct genomic instability patterns associated with DNA repair and cell-cycle checkpoint pathways in Ewing's sarcoma", 
    "pagination": "2084-2090", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1025623018"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/sj.onc.1210845"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "17952124"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/sj.onc.1210845", 
      "https://app.dimensions.ai/details/publication/pub.1025623018"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-11-01T18:10", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211101/entities/gbq_results/article/article_434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/sj.onc.1210845"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.onc.1210845'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.onc.1210845'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.onc.1210845'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.onc.1210845'


 

This table displays all metadata directly associated to this object as RDF triples.

309 TRIPLES      22 PREDICATES      126 URIs      112 LITERALS      15 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/sj.onc.1210845 schema:about N5bdcb19d05af45ea803080d85c6d40e9
2 N748c2e42363b45638b521921455c83bb
3 Na03a998eaf9242108dc1b1fce78abee1
4 Naf9d27d334b64528bb491786cfb03b2a
5 Nd07f37afe9014c349e8f6e1c46c8fa5b
6 Neee8565f663b4ad69738c73476d706af
7 Nef051db991514ff19eaefb1680bca656
8 Nf8005c9d11b74f5cbf42b1922aff81f3
9 anzsrc-for:11
10 anzsrc-for:1112
11 schema:author N71eb0ce126a84c41bff6b3596e6ebb8d
12 schema:citation sg:pub.10.1038/359162a0
13 sg:pub.10.1038/89044
14 sg:pub.10.1038/bjc.1997.242
15 sg:pub.10.1038/sj.bjc.6600332
16 sg:pub.10.1038/sj.onc.1208060
17 sg:pub.10.1186/1471-2105-6-309
18 schema:datePublished 2007-10-22
19 schema:datePublishedReg 2007-10-22
20 schema:description Ewing's sarcoma (ES) is characterized by specific chromosome translocations, the most common being t(11;22)(q24;q12). Additionally, other type of genetic abnormalities may occur and be relevant for explaining the variable tumour biology and clinical outcome. We have carried out a high-resolution array CGH and expression profiling on 25 ES tumour samples to characterize the DNA copy number aberrations (CNA) occurring in these tumours and determine their association with gene-expression profiles and clinical outcome. CNA were observed in 84% of the cases. We observed a median number of three aberrations per case. Besides numerical chromosome changes, smaller aberrations were found and defined at chromosomes 5p, 7q and 9p. All CNA were compiled to define the smallest overlapping regions of imbalance (SORI). A total of 35 SORI were delimited. Bioinformatics analyses were conducted to identify subgroups according to the pattern of genomic instability. Unsupervised and supervised clustering analysis (using SORI as variables) segregated the tumours in two distinct groups: one genomically stable (⩽3 CNA) and other genomically unstable (>3 CNA). The genomic unstable group showed a statistically significant shorter overall survival and was more refractory to chemotherapy. Expression profile analysis revealed significant differences between both groups. Genes related with chromosome segregation, DNA repair pathways and cell-cycle control were upregulated in the genomically unstable group. This report elucidates, for the first time, data about genomic instability in ES, based on CNA and expression profiling, and shows that a genomically unstable group of Ewing's tumours is correlated with a significant poor prognosis.
21 schema:genre article
22 schema:inLanguage en
23 schema:isAccessibleForFree true
24 schema:isPartOf N8b2cebcfcce94225b697fcab16c2d341
25 Ne98be98a05f6472290e2e0be9442cb82
26 sg:journal.1097543
27 schema:keywords CGH
28 DNA copy number aberrations
29 DNA repair
30 DNA repair pathways
31 ES tumor samples
32 Ewing tumors
33 Ewing's sarcoma
34 SORI
35 aberrations
36 abnormalities
37 analysis
38 array CGH
39 association
40 bioinformatics analysis
41 biology
42 cases
43 cell-cycle checkpoint pathways
44 cell-cycle control
45 changes
46 checkpoint pathway
47 chemotherapy
48 chromosome 5p
49 chromosome changes
50 chromosome segregation
51 chromosome translocation
52 clinical outcomes
53 control
54 copy number aberrations
55 data
56 differences
57 distinct genomic instability patterns
58 distinct groups
59 expression
60 expression profile analysis
61 expression profiling
62 first time
63 gene-expression profiles
64 gene-expression profiling
65 genes
66 genetic abnormalities
67 genomic instability
68 genomic instability patterns
69 genomic unstable group
70 group
71 high-resolution array CGH
72 imbalance
73 instability
74 instability patterns
75 median number
76 number
77 number aberrations
78 numerical chromosome changes
79 outcomes
80 overall survival
81 pathway
82 patterns
83 poor prognosis
84 profile
85 profile analysis
86 profiling
87 prognosis
88 region
89 regions of imbalance
90 repair
91 repair pathways
92 report
93 samples
94 sarcoma
95 segregation
96 shorter overall survival
97 significant differences
98 significant poorer prognosis
99 significant shorter overall survival
100 small aberrations
101 specific chromosome translocations
102 subgroups
103 survival
104 time
105 total
106 translocation
107 tumor biology
108 tumor samples
109 tumors
110 types
111 unstable group
112 variable tumor biology
113 schema:name Array CGH and gene-expression profiling reveals distinct genomic instability patterns associated with DNA repair and cell-cycle checkpoint pathways in Ewing's sarcoma
114 schema:pagination 2084-2090
115 schema:productId N3430c588c3c74b96b6b8dbd3578676c3
116 N5ad2258d05754a6f9036567e8f431e17
117 N729cecbb87f9437badc1395d87da1234
118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025623018
119 https://doi.org/10.1038/sj.onc.1210845
120 schema:sdDatePublished 2021-11-01T18:10
121 schema:sdLicense https://scigraph.springernature.com/explorer/license/
122 schema:sdPublisher N525fd1038732425ba73b447764cff7ed
123 schema:url https://doi.org/10.1038/sj.onc.1210845
124 sgo:license sg:explorer/license/
125 sgo:sdDataset articles
126 rdf:type schema:ScholarlyArticle
127 N0841d4b4a917425495299b9a042526fa rdf:first sg:person.0767025511.58
128 rdf:rest N39e5e9e8f7c649b5baf4ea7e3258eace
129 N09b9677473624182ab8a08e4ffe9d356 rdf:first sg:person.0700636421.39
130 rdf:rest Nc13db47ebbdb4584814b3e4afcac5901
131 N0afe224c46f744a489404d0b580ee5cf rdf:first sg:person.0602115304.19
132 rdf:rest N10c4d299f5d446208c99434df2a69575
133 N10c4d299f5d446208c99434df2a69575 rdf:first sg:person.01147144220.56
134 rdf:rest Nf47c3bb19c834c21bcab36a1063e024d
135 N2e69a56099be49cf841c46761be42fb3 rdf:first sg:person.01246512175.01
136 rdf:rest rdf:nil
137 N3430c588c3c74b96b6b8dbd3578676c3 schema:name dimensions_id
138 schema:value pub.1025623018
139 rdf:type schema:PropertyValue
140 N39e5e9e8f7c649b5baf4ea7e3258eace rdf:first sg:person.0765377607.72
141 rdf:rest N464ad1a111784b55855e6eae4b98c41e
142 N3c5247c31c484c2ba8bc0311d6cfc831 schema:affiliation grid-institutes:grid.411855.c
143 schema:familyName Molares
144 schema:givenName A
145 rdf:type schema:Person
146 N42e0bb49e7f74865906f561b4f321395 rdf:first sg:person.010652500611.49
147 rdf:rest Na46925ea16934dfbbbd523a1d2364d86
148 N464ad1a111784b55855e6eae4b98c41e rdf:first sg:person.01012771330.04
149 rdf:rest Nc67d28a132734a4c9d4f98f4fa69fd5f
150 N525fd1038732425ba73b447764cff7ed schema:name Springer Nature - SN SciGraph project
151 rdf:type schema:Organization
152 N5ad2258d05754a6f9036567e8f431e17 schema:name doi
153 schema:value 10.1038/sj.onc.1210845
154 rdf:type schema:PropertyValue
155 N5bdcb19d05af45ea803080d85c6d40e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name DNA Repair
157 rdf:type schema:DefinedTerm
158 N71eb0ce126a84c41bff6b3596e6ebb8d rdf:first sg:person.01101113651.98
159 rdf:rest N9d076aff1b6f474383e271a668361350
160 N729cecbb87f9437badc1395d87da1234 schema:name pubmed_id
161 schema:value 17952124
162 rdf:type schema:PropertyValue
163 N748c2e42363b45638b521921455c83bb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Gene Expression Profiling
165 rdf:type schema:DefinedTerm
166 N8b2cebcfcce94225b697fcab16c2d341 schema:volumeNumber 27
167 rdf:type schema:PublicationVolume
168 N9d076aff1b6f474383e271a668361350 rdf:first sg:person.012571320022.50
169 rdf:rest N0afe224c46f744a489404d0b580ee5cf
170 Na03a998eaf9242108dc1b1fce78abee1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Humans
172 rdf:type schema:DefinedTerm
173 Na46925ea16934dfbbbd523a1d2364d86 rdf:first sg:person.01176025111.36
174 rdf:rest N2e69a56099be49cf841c46761be42fb3
175 Naf9d27d334b64528bb491786cfb03b2a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
176 schema:name Genomic Instability
177 rdf:type schema:DefinedTerm
178 Nc13db47ebbdb4584814b3e4afcac5901 rdf:first sg:person.01257537002.15
179 rdf:rest N42e0bb49e7f74865906f561b4f321395
180 Nc67d28a132734a4c9d4f98f4fa69fd5f rdf:first N3c5247c31c484c2ba8bc0311d6cfc831
181 rdf:rest N09b9677473624182ab8a08e4ffe9d356
182 Nd07f37afe9014c349e8f6e1c46c8fa5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Prognosis
184 rdf:type schema:DefinedTerm
185 Ne98be98a05f6472290e2e0be9442cb82 schema:issueNumber 14
186 rdf:type schema:PublicationIssue
187 Neee8565f663b4ad69738c73476d706af schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Oligonucleotide Array Sequence Analysis
189 rdf:type schema:DefinedTerm
190 Nef051db991514ff19eaefb1680bca656 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Sarcoma, Ewing
192 rdf:type schema:DefinedTerm
193 Nf47c3bb19c834c21bcab36a1063e024d rdf:first sg:person.01136311241.44
194 rdf:rest N0841d4b4a917425495299b9a042526fa
195 Nf8005c9d11b74f5cbf42b1922aff81f3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Bone Neoplasms
197 rdf:type schema:DefinedTerm
198 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
199 schema:name Medical and Health Sciences
200 rdf:type schema:DefinedTerm
201 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
202 schema:name Oncology and Carcinogenesis
203 rdf:type schema:DefinedTerm
204 sg:journal.1097543 schema:issn 0950-9232
205 1476-5594
206 schema:name Oncogene
207 schema:publisher Springer Nature
208 rdf:type schema:Periodical
209 sg:person.01012771330.04 schema:affiliation grid-institutes:grid.418711.a
210 schema:familyName Cerveira
211 schema:givenName N
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012771330.04
213 rdf:type schema:Person
214 sg:person.010652500611.49 schema:affiliation grid-institutes:grid.81821.32
215 schema:familyName Sastre
216 schema:givenName A
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010652500611.49
218 rdf:type schema:Person
219 sg:person.01101113651.98 schema:affiliation grid-institutes:grid.7719.8
220 schema:familyName Ferreira
221 schema:givenName B I
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101113651.98
223 rdf:type schema:Person
224 sg:person.01136311241.44 schema:affiliation grid-institutes:grid.7719.8
225 schema:familyName Largo
226 schema:givenName C
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136311241.44
228 rdf:type schema:Person
229 sg:person.01147144220.56 schema:affiliation grid-institutes:grid.7719.8
230 schema:familyName Acquadro
231 schema:givenName F
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01147144220.56
233 rdf:type schema:Person
234 sg:person.01176025111.36 schema:affiliation grid-institutes:grid.81821.32
235 schema:familyName Garcia-Miguel
236 schema:givenName P
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176025111.36
238 rdf:type schema:Person
239 sg:person.01246512175.01 schema:affiliation grid-institutes:grid.7719.8
240 schema:familyName Cigudosa
241 schema:givenName J C
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246512175.01
243 rdf:type schema:Person
244 sg:person.012571320022.50 schema:affiliation grid-institutes:grid.4711.3
245 schema:familyName Alonso
246 schema:givenName J
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571320022.50
248 rdf:type schema:Person
249 sg:person.01257537002.15 schema:affiliation grid-institutes:grid.4711.3
250 schema:familyName Pestaña
251 schema:givenName Á
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257537002.15
253 rdf:type schema:Person
254 sg:person.0602115304.19 schema:affiliation grid-institutes:grid.4711.3
255 schema:familyName Carrillo
256 schema:givenName J
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602115304.19
258 rdf:type schema:Person
259 sg:person.0700636421.39 schema:affiliation grid-institutes:grid.7719.8
260 schema:familyName Goméz-López
261 schema:givenName G
262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700636421.39
263 rdf:type schema:Person
264 sg:person.0765377607.72 schema:affiliation grid-institutes:grid.418711.a
265 schema:familyName Teixeira
266 schema:givenName M R
267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765377607.72
268 rdf:type schema:Person
269 sg:person.0767025511.58 schema:affiliation grid-institutes:grid.7719.8
270 schema:familyName Suela
271 schema:givenName J
272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767025511.58
273 rdf:type schema:Person
274 sg:pub.10.1038/359162a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008302153
275 https://doi.org/10.1038/359162a0
276 rdf:type schema:CreativeWork
277 sg:pub.10.1038/89044 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002292014
278 https://doi.org/10.1038/89044
279 rdf:type schema:CreativeWork
280 sg:pub.10.1038/bjc.1997.242 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008000905
281 https://doi.org/10.1038/bjc.1997.242
282 rdf:type schema:CreativeWork
283 sg:pub.10.1038/sj.bjc.6600332 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048032216
284 https://doi.org/10.1038/sj.bjc.6600332
285 rdf:type schema:CreativeWork
286 sg:pub.10.1038/sj.onc.1208060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001915129
287 https://doi.org/10.1038/sj.onc.1208060
288 rdf:type schema:CreativeWork
289 sg:pub.10.1186/1471-2105-6-309 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030703847
290 https://doi.org/10.1186/1471-2105-6-309
291 rdf:type schema:CreativeWork
292 grid-institutes:grid.411855.c schema:alternateName Fundación Biomédica del CHUVI, Hospital do Rebullón, Vigo, Pontevedra, Spain
293 schema:name Fundación Biomédica del CHUVI, Hospital do Rebullón, Vigo, Pontevedra, Spain
294 rdf:type schema:Organization
295 grid-institutes:grid.418711.a schema:alternateName Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal
296 schema:name Department of Genetics, Portuguese Oncology Institute and Biomedical Sciences Institute (ICBAS), Porto, Portugal
297 rdf:type schema:Organization
298 grid-institutes:grid.4711.3 schema:alternateName Departamento de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas ‘A. Sols’ (CSIC-UAM), Madrid, Spain
299 schema:name Departamento de Biología Molecular y Celular del Cáncer, Instituto de Investigaciones Biomédicas ‘A. Sols’ (CSIC-UAM), Madrid, Spain
300 rdf:type schema:Organization
301 grid-institutes:grid.7719.8 schema:alternateName Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncológicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain
302 Unidad de Bioinformática, Centro Nacional de Investigaciones Oncológicas (CNIO), Madrid, Spain
303 schema:name Fundación Biomédica del CHUVI, Hospital do Rebullón, Vigo, Pontevedra, Spain
304 Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncológicas (CNIO), and CIBER on Rare Diseases (CIBERER), Madrid, Spain
305 Unidad de Bioinformática, Centro Nacional de Investigaciones Oncológicas (CNIO), Madrid, Spain
306 rdf:type schema:Organization
307 grid-institutes:grid.81821.32 schema:alternateName Unidad Oncohematología Infantil, Hospital Infantil La Paz, Madrid, Spain
308 schema:name Unidad Oncohematología Infantil, Hospital Infantil La Paz, Madrid, Spain
309 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...