Genetic variation in genes encoding for polymerase ζ subunits associates with breast cancer risk, tumour characteristics and survival View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-04-01

AUTHORS

Verena Varadi, Melanie Bevier, Ewa Grzybowska, Robert Johansson, Kerstin Enquist, Roger Henriksson, Dorota Butkiewicz, Jolanta Pamula-Pilat, Karolina Tecza, Kari Hemminki, Per Lenner, Asta Försti

ABSTRACT

Chromosomal instability is a known hallmark of many cancers. DNA polymerases represent a group of enzymes that are involved in the mechanism of chromosomal instability as they have a central function in DNA metabolism. We hypothesized that genetic variation in the polymerase genes may affect gene expression or protein configuration and by that cancer risk and clinical outcome. We selected four genes encoding for the catalytic subunits of the polymerases β, δ, θ and ζ (POLB, POLD1, POLQ and REV3L, respectively) and two associated proteins (MAD2L2 and REV1) because of their previously reported association with chromosomal instability and/or tumorigenesis. We selected potentially functional and most informative tagging single nucleotide polymorphisms (SNPs) for genotyping in a population-based series of 783 Swedish breast cancer (BC) cases and 1562 controls. SNPs that showed a significant association in the Swedish population were additionally genotyped in a Polish population consisting of 506 familial/early onset BC cases and 568 controls. SNPs in all three polymerase ζ subunit genes associated either with BC risk or prognosis. Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68–0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05–1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28–0.86). Homozygous carriers of the minor allele C of the third SNP in REV3L, rs11153292, had significantly worse survival compared to the TT genotype carriers (HR 2.93, 95% CI 1.34–6.44). Minor allele carriers of two REV1 SNPs (rs6761391 and rs3792142) had significantly more often large tumours and tumours with high histological grade and stage. No association was observed for SNPs in POLB, POLQ and POLD1. Altogether, our data suggest a significant role of genetic variation in the polymerase ζ subunit genes regarding the development and progression of BC. More... »

PAGES

235-245

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-011-1460-z

DOI

http://dx.doi.org/10.1007/s10549-011-1460-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007059305

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21455670


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": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aged, 80 and over", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Breast Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Directed DNA Polymerase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mad2 Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neoplasm Staging", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Poland", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Risk", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Survival Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sweden", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany", 
          "id": "http://www.grid.ac/institutes/grid.7497.d", 
          "name": [
            "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Varadi", 
        "givenName": "Verena", 
        "id": "sg:person.0756240414.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756240414.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany", 
          "id": "http://www.grid.ac/institutes/grid.7497.d", 
          "name": [
            "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bevier", 
        "givenName": "Melanie", 
        "id": "sg:person.01133020656.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133020656.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland", 
          "id": "http://www.grid.ac/institutes/grid.418165.f", 
          "name": [
            "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grzybowska", 
        "givenName": "Ewa", 
        "id": "sg:person.0770675224.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770675224.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Radiation Sciences, Oncology, Ume\u00e5 University, Ume\u00e5, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.12650.30", 
          "name": [
            "Department of Radiation Sciences, Oncology, Ume\u00e5 University, Ume\u00e5, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Johansson", 
        "givenName": "Robert", 
        "id": "sg:person.01036250535.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036250535.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Public Health and Clinical Medicine/Nutritional Research, Ume\u00e5 University, Ume\u00e5, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.12650.30", 
          "name": [
            "Department of Public Health and Clinical Medicine/Nutritional Research, Ume\u00e5 University, Ume\u00e5, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Enquist", 
        "givenName": "Kerstin", 
        "id": "sg:person.0643342400.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643342400.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Oncology, Karolinska University Hospital, Stockholm, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Radiation Sciences, Oncology, Ume\u00e5 University, Ume\u00e5, Sweden", 
            "Department of Oncology, Karolinska University Hospital, Stockholm, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Henriksson", 
        "givenName": "Roger", 
        "id": "sg:person.0624045301.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624045301.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland", 
          "id": "http://www.grid.ac/institutes/grid.418165.f", 
          "name": [
            "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Butkiewicz", 
        "givenName": "Dorota", 
        "id": "sg:person.01255030614.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255030614.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland", 
          "id": "http://www.grid.ac/institutes/grid.418165.f", 
          "name": [
            "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pamula-Pilat", 
        "givenName": "Jolanta", 
        "id": "sg:person.0754410127.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754410127.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland", 
          "id": "http://www.grid.ac/institutes/grid.418165.f", 
          "name": [
            "Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tecza", 
        "givenName": "Karolina", 
        "id": "sg:person.01022523327.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022523327.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Primary Health Care Research, Clinical Research Center, Lund University, Malm\u00f6, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.4514.4", 
          "name": [
            "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany", 
            "Center for Primary Health Care Research, Clinical Research Center, Lund University, Malm\u00f6, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hemminki", 
        "givenName": "Kari", 
        "id": "sg:person.0726772160.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726772160.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Radiation Sciences, Oncology, Ume\u00e5 University, Ume\u00e5, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.12650.30", 
          "name": [
            "Department of Radiation Sciences, Oncology, Ume\u00e5 University, Ume\u00e5, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lenner", 
        "givenName": "Per", 
        "id": "sg:person.0721051037.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721051037.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Primary Health Care Research, Clinical Research Center, Lund University, Malm\u00f6, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.4514.4", 
          "name": [
            "Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany", 
            "Center for Primary Health Care Research, Clinical Research Center, Lund University, Malm\u00f6, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "F\u00f6rsti", 
        "givenName": "Asta", 
        "id": "sg:person.01230336622.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230336622.01"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1023/a:1015270324325", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021221270", 
          "https://doi.org/10.1023/a:1015270324325"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2008.212", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021350480", 
          "https://doi.org/10.1038/ejhg.2008.212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/onc.2008.212", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013053923", 
          "https://doi.org/10.1038/onc.2008.212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1861", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016534738", 
          "https://doi.org/10.1038/ng1861"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm2858", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028912859", 
          "https://doi.org/10.1038/nrm2858"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10549-008-0089-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018719994", 
          "https://doi.org/10.1007/s10549-008-0089-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm1781", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049912069", 
          "https://doi.org/10.1038/nrm1781"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2345", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021277083", 
          "https://doi.org/10.1038/nrg2345"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10549-007-9496-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038042915", 
          "https://doi.org/10.1007/s10549-007-9496-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature03099", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012218108", 
          "https://doi.org/10.1038/nature03099"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2380", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041270694", 
          "https://doi.org/10.1038/nrg2380"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2011-04-01", 
    "datePublishedReg": "2011-04-01", 
    "description": "Chromosomal instability is a known hallmark of many cancers. DNA polymerases represent a group of enzymes that are involved in the mechanism of chromosomal instability as they have a central function in DNA metabolism. We hypothesized that genetic variation in the polymerase genes may affect gene expression or protein configuration and by that cancer risk and clinical outcome. We selected four genes encoding for the catalytic subunits of the polymerases \u03b2, \u03b4, \u03b8 and \u03b6 (POLB, POLD1, POLQ and REV3L, respectively) and two associated proteins (MAD2L2 and REV1) because of their previously reported association with chromosomal instability and/or tumorigenesis. We selected potentially functional and most informative tagging single nucleotide polymorphisms (SNPs) for genotyping in a population-based series of 783 Swedish breast cancer (BC) cases and 1562 controls. SNPs that showed a significant association in the Swedish population were additionally genotyped in a Polish population consisting of 506 familial/early onset BC cases and 568 controls. SNPs in all three polymerase \u03b6 subunit genes associated either with BC risk or prognosis. Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68\u20130.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05\u20131.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28\u20130.86). Homozygous carriers of the minor allele C of the third SNP in REV3L, rs11153292, had significantly worse survival compared to the TT genotype carriers (HR 2.93, 95% CI 1.34\u20136.44). Minor allele carriers of two REV1 SNPs (rs6761391 and rs3792142) had significantly more often large tumours and tumours with high histological grade and stage. No association was observed for SNPs in POLB, POLQ and POLD1. Altogether, our data suggest a significant role of genetic variation in the polymerase \u03b6 subunit genes regarding the development and progression of BC.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s10549-011-1460-z", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1092777", 
        "issn": [
          "0167-6806", 
          "1573-7217"
        ], 
        "name": "Breast Cancer Research and Treatment", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "129"
      }
    ], 
    "keywords": [
      "single nucleotide polymorphisms", 
      "genetic variation", 
      "chromosomal instability", 
      "subunit gene", 
      "third single nucleotide polymorphism", 
      "group of enzymes", 
      "DNA metabolism", 
      "catalytic subunit", 
      "gene expression", 
      "associated proteins", 
      "polymerase \u03b6", 
      "genes", 
      "polymerase \u03b2", 
      "polymerase gene", 
      "DNA polymerase", 
      "protein configuration", 
      "nucleotide polymorphisms", 
      "progression of BC", 
      "REV3L", 
      "central function", 
      "minor allele C", 
      "MAD2L2", 
      "allele C", 
      "minor allele carriers", 
      "PolB", 
      "polymerase", 
      "subunits", 
      "POLQ", 
      "protein", 
      "tumorigenesis", 
      "enzyme", 
      "POLD1", 
      "Polish population", 
      "variation", 
      "expression", 
      "polymorphism", 
      "population", 
      "associates", 
      "metabolism", 
      "survival", 
      "hallmark", 
      "significant role", 
      "BC risk", 
      "cancer risk", 
      "breast cancer cases", 
      "population-based series", 
      "mechanism", 
      "high histological grade", 
      "Swedish population", 
      "breast cancer risk", 
      "role", 
      "TT genotype carriers", 
      "association", 
      "progression", 
      "homozygous carriers", 
      "function", 
      "worse survival", 
      "clinical outcomes", 
      "tumor characteristics", 
      "large tumors", 
      "histological grade", 
      "cancer cases", 
      "genotype carriers", 
      "allele carriers", 
      "BC cases", 
      "stage", 
      "significant association", 
      "cancer", 
      "control", 
      "tumors", 
      "development", 
      "risk", 
      "instability", 
      "carriers", 
      "prognosis", 
      "data", 
      "outcomes", 
      "cases", 
      "group", 
      "grade", 
      "BC", 
      "characteristics", 
      "series", 
      "configuration"
    ], 
    "name": "Genetic variation in genes encoding for polymerase \u03b6 subunits associates with breast cancer risk, tumour characteristics and survival", 
    "pagination": "235-245", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1007059305"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10549-011-1460-z"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "21455670"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10549-011-1460-z", 
      "https://app.dimensions.ai/details/publication/pub.1007059305"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-10-01T06:37", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221001/entities/gbq_results/article/article_550.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s10549-011-1460-z"
  }
]
 

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.10.1007/s10549-011-1460-z'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10549-011-1460-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10549-011-1460-z'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10549-011-1460-z'


 

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

358 TRIPLES      21 PREDICATES      139 URIs      120 LITERALS      26 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10549-011-1460-z schema:about N09c06c2437724cccad4caeb63e93041c
2 N0f3fdb6f9b3a4feb8ac9bd450254cf00
3 N178f5c183b8b42068c583b2487a2a23f
4 N26ab5cfaee2245e0bdbb61090ec5535a
5 N2c1674e663794dcebdbcf006fe7cbffa
6 N3386e6ff507f4dc1a77d2d9936152216
7 N3714e1ba51944e5b82ca9800277e8786
8 N3a0af03de6c341988d8f09662568b418
9 N49159a2cc27c454da418cf90519867c5
10 N57fd6f6aed174193b65b37d704c5d792
11 N5cdbf05d0936497faf4f5711d0298275
12 N7f75859fd3a2438cb855fdf7f06a9b6e
13 N847a1adf7138456ca202a073fb243230
14 N9a2664f543b441b0a0bd0b6118f05c03
15 N9d66c4162ebe45a7ac58fe494bdc9f64
16 Nb91b6d78d8214b079b7056c1f5590611
17 Nbe77075684314d18b0c733fe57dbef85
18 Nc3a81ebd6c1c4d6198d3272cb5537a13
19 Nd44c801288f0406eb77025fbf30f4fa8
20 anzsrc-for:11
21 anzsrc-for:1112
22 schema:author N0d8570fe60b8454a8873a74c420cbd4b
23 schema:citation sg:pub.10.1007/s10549-007-9496-9
24 sg:pub.10.1007/s10549-008-0089-z
25 sg:pub.10.1023/a:1015270324325
26 sg:pub.10.1038/ejhg.2008.212
27 sg:pub.10.1038/nature03099
28 sg:pub.10.1038/ng1861
29 sg:pub.10.1038/nrg2345
30 sg:pub.10.1038/nrg2380
31 sg:pub.10.1038/nrm1781
32 sg:pub.10.1038/nrm2858
33 sg:pub.10.1038/onc.2008.212
34 schema:datePublished 2011-04-01
35 schema:datePublishedReg 2011-04-01
36 schema:description Chromosomal instability is a known hallmark of many cancers. DNA polymerases represent a group of enzymes that are involved in the mechanism of chromosomal instability as they have a central function in DNA metabolism. We hypothesized that genetic variation in the polymerase genes may affect gene expression or protein configuration and by that cancer risk and clinical outcome. We selected four genes encoding for the catalytic subunits of the polymerases β, δ, θ and ζ (POLB, POLD1, POLQ and REV3L, respectively) and two associated proteins (MAD2L2 and REV1) because of their previously reported association with chromosomal instability and/or tumorigenesis. We selected potentially functional and most informative tagging single nucleotide polymorphisms (SNPs) for genotyping in a population-based series of 783 Swedish breast cancer (BC) cases and 1562 controls. SNPs that showed a significant association in the Swedish population were additionally genotyped in a Polish population consisting of 506 familial/early onset BC cases and 568 controls. SNPs in all three polymerase ζ subunit genes associated either with BC risk or prognosis. Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68–0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05–1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28–0.86). Homozygous carriers of the minor allele C of the third SNP in REV3L, rs11153292, had significantly worse survival compared to the TT genotype carriers (HR 2.93, 95% CI 1.34–6.44). Minor allele carriers of two REV1 SNPs (rs6761391 and rs3792142) had significantly more often large tumours and tumours with high histological grade and stage. No association was observed for SNPs in POLB, POLQ and POLD1. Altogether, our data suggest a significant role of genetic variation in the polymerase ζ subunit genes regarding the development and progression of BC.
37 schema:genre article
38 schema:isAccessibleForFree true
39 schema:isPartOf N014c5ec1edaa47628143231274593df8
40 N2e8148617c474d69bf708a41bcaa261e
41 sg:journal.1092777
42 schema:keywords BC
43 BC cases
44 BC risk
45 DNA metabolism
46 DNA polymerase
47 MAD2L2
48 POLD1
49 POLQ
50 PolB
51 Polish population
52 REV3L
53 Swedish population
54 TT genotype carriers
55 allele C
56 allele carriers
57 associated proteins
58 associates
59 association
60 breast cancer cases
61 breast cancer risk
62 cancer
63 cancer cases
64 cancer risk
65 carriers
66 cases
67 catalytic subunit
68 central function
69 characteristics
70 chromosomal instability
71 clinical outcomes
72 configuration
73 control
74 data
75 development
76 enzyme
77 expression
78 function
79 gene expression
80 genes
81 genetic variation
82 genotype carriers
83 grade
84 group
85 group of enzymes
86 hallmark
87 high histological grade
88 histological grade
89 homozygous carriers
90 instability
91 large tumors
92 mechanism
93 metabolism
94 minor allele C
95 minor allele carriers
96 nucleotide polymorphisms
97 outcomes
98 polymerase
99 polymerase gene
100 polymerase β
101 polymerase ζ
102 polymorphism
103 population
104 population-based series
105 prognosis
106 progression
107 progression of BC
108 protein
109 protein configuration
110 risk
111 role
112 series
113 significant association
114 significant role
115 single nucleotide polymorphisms
116 stage
117 subunit gene
118 subunits
119 survival
120 third single nucleotide polymorphism
121 tumor characteristics
122 tumorigenesis
123 tumors
124 variation
125 worse survival
126 schema:name Genetic variation in genes encoding for polymerase ζ subunits associates with breast cancer risk, tumour characteristics and survival
127 schema:pagination 235-245
128 schema:productId N2975c99a06e5459684618e6b93871caa
129 Na8a9be3364894318bdb07580a982692e
130 Nc59d390c3a19449c8f4d1ae7c80f890d
131 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007059305
132 https://doi.org/10.1007/s10549-011-1460-z
133 schema:sdDatePublished 2022-10-01T06:37
134 schema:sdLicense https://scigraph.springernature.com/explorer/license/
135 schema:sdPublisher N8a12621081bd4215ae9d53453172909b
136 schema:url https://doi.org/10.1007/s10549-011-1460-z
137 sgo:license sg:explorer/license/
138 sgo:sdDataset articles
139 rdf:type schema:ScholarlyArticle
140 N014c5ec1edaa47628143231274593df8 schema:issueNumber 1
141 rdf:type schema:PublicationIssue
142 N09c06c2437724cccad4caeb63e93041c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Breast Neoplasms
144 rdf:type schema:DefinedTerm
145 N0d8570fe60b8454a8873a74c420cbd4b rdf:first sg:person.0756240414.41
146 rdf:rest N191fda479e9b499189b3ad15c1e2b688
147 N0f3fdb6f9b3a4feb8ac9bd450254cf00 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Polymorphism, Single Nucleotide
149 rdf:type schema:DefinedTerm
150 N156038e8c00b42d4b3644711aac33230 rdf:first sg:person.0643342400.87
151 rdf:rest N2ca596e472e1486ba8bc171d04748c3b
152 N178f5c183b8b42068c583b2487a2a23f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Risk
154 rdf:type schema:DefinedTerm
155 N191fda479e9b499189b3ad15c1e2b688 rdf:first sg:person.01133020656.96
156 rdf:rest N99a5ddfbee39466b9db2ad222d3e61de
157 N26ab5cfaee2245e0bdbb61090ec5535a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
158 schema:name Adult
159 rdf:type schema:DefinedTerm
160 N2975c99a06e5459684618e6b93871caa schema:name doi
161 schema:value 10.1007/s10549-011-1460-z
162 rdf:type schema:PropertyValue
163 N2c1674e663794dcebdbcf006fe7cbffa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name DNA-Binding Proteins
165 rdf:type schema:DefinedTerm
166 N2ca596e472e1486ba8bc171d04748c3b rdf:first sg:person.0624045301.14
167 rdf:rest N4c7717c6ba1d41aab9b400bca5fef38a
168 N2e8148617c474d69bf708a41bcaa261e schema:volumeNumber 129
169 rdf:type schema:PublicationVolume
170 N30f8d80a3de14cbe86afd53950d63cbd rdf:first sg:person.0721051037.52
171 rdf:rest N50675491c0dc49a6bfdf2b5e1cd2a400
172 N3386e6ff507f4dc1a77d2d9936152216 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name DNA-Directed DNA Polymerase
174 rdf:type schema:DefinedTerm
175 N367d525220d540dcac4bd2f8af9abb5e rdf:first sg:person.0754410127.60
176 rdf:rest Nab199a99b6284c8bb50f4b2f7ec85071
177 N3714e1ba51944e5b82ca9800277e8786 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Poland
179 rdf:type schema:DefinedTerm
180 N3a0af03de6c341988d8f09662568b418 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
181 schema:name Survival Analysis
182 rdf:type schema:DefinedTerm
183 N49159a2cc27c454da418cf90519867c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name Mad2 Proteins
185 rdf:type schema:DefinedTerm
186 N4c7717c6ba1d41aab9b400bca5fef38a rdf:first sg:person.01255030614.90
187 rdf:rest N367d525220d540dcac4bd2f8af9abb5e
188 N50675491c0dc49a6bfdf2b5e1cd2a400 rdf:first sg:person.01230336622.01
189 rdf:rest rdf:nil
190 N513a0e96476b46cf90d89c1e2ccc294b rdf:first sg:person.0726772160.17
191 rdf:rest N30f8d80a3de14cbe86afd53950d63cbd
192 N5591dbcb531c485d9ee2ba7939e07dd7 rdf:first sg:person.01036250535.82
193 rdf:rest N156038e8c00b42d4b3644711aac33230
194 N57fd6f6aed174193b65b37d704c5d792 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Female
196 rdf:type schema:DefinedTerm
197 N5cdbf05d0936497faf4f5711d0298275 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
198 schema:name Genetic Predisposition to Disease
199 rdf:type schema:DefinedTerm
200 N7f75859fd3a2438cb855fdf7f06a9b6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
201 schema:name Neoplasm Staging
202 rdf:type schema:DefinedTerm
203 N847a1adf7138456ca202a073fb243230 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
204 schema:name Young Adult
205 rdf:type schema:DefinedTerm
206 N8a12621081bd4215ae9d53453172909b schema:name Springer Nature - SN SciGraph project
207 rdf:type schema:Organization
208 N99a5ddfbee39466b9db2ad222d3e61de rdf:first sg:person.0770675224.18
209 rdf:rest N5591dbcb531c485d9ee2ba7939e07dd7
210 N9a2664f543b441b0a0bd0b6118f05c03 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
211 schema:name Middle Aged
212 rdf:type schema:DefinedTerm
213 N9d66c4162ebe45a7ac58fe494bdc9f64 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
214 schema:name Aged, 80 and over
215 rdf:type schema:DefinedTerm
216 Na8a9be3364894318bdb07580a982692e schema:name dimensions_id
217 schema:value pub.1007059305
218 rdf:type schema:PropertyValue
219 Nab199a99b6284c8bb50f4b2f7ec85071 rdf:first sg:person.01022523327.48
220 rdf:rest N513a0e96476b46cf90d89c1e2ccc294b
221 Nb91b6d78d8214b079b7056c1f5590611 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
222 schema:name Aged
223 rdf:type schema:DefinedTerm
224 Nbe77075684314d18b0c733fe57dbef85 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
225 schema:name Humans
226 rdf:type schema:DefinedTerm
227 Nc3a81ebd6c1c4d6198d3272cb5537a13 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
228 schema:name Sweden
229 rdf:type schema:DefinedTerm
230 Nc59d390c3a19449c8f4d1ae7c80f890d schema:name pubmed_id
231 schema:value 21455670
232 rdf:type schema:PropertyValue
233 Nd44c801288f0406eb77025fbf30f4fa8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
234 schema:name Proteins
235 rdf:type schema:DefinedTerm
236 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
237 schema:name Medical and Health Sciences
238 rdf:type schema:DefinedTerm
239 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
240 schema:name Oncology and Carcinogenesis
241 rdf:type schema:DefinedTerm
242 sg:journal.1092777 schema:issn 0167-6806
243 1573-7217
244 schema:name Breast Cancer Research and Treatment
245 schema:publisher Springer Nature
246 rdf:type schema:Periodical
247 sg:person.01022523327.48 schema:affiliation grid-institutes:grid.418165.f
248 schema:familyName Tecza
249 schema:givenName Karolina
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022523327.48
251 rdf:type schema:Person
252 sg:person.01036250535.82 schema:affiliation grid-institutes:grid.12650.30
253 schema:familyName Johansson
254 schema:givenName Robert
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036250535.82
256 rdf:type schema:Person
257 sg:person.01133020656.96 schema:affiliation grid-institutes:grid.7497.d
258 schema:familyName Bevier
259 schema:givenName Melanie
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133020656.96
261 rdf:type schema:Person
262 sg:person.01230336622.01 schema:affiliation grid-institutes:grid.4514.4
263 schema:familyName Försti
264 schema:givenName Asta
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230336622.01
266 rdf:type schema:Person
267 sg:person.01255030614.90 schema:affiliation grid-institutes:grid.418165.f
268 schema:familyName Butkiewicz
269 schema:givenName Dorota
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255030614.90
271 rdf:type schema:Person
272 sg:person.0624045301.14 schema:affiliation grid-institutes:grid.24381.3c
273 schema:familyName Henriksson
274 schema:givenName Roger
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624045301.14
276 rdf:type schema:Person
277 sg:person.0643342400.87 schema:affiliation grid-institutes:grid.12650.30
278 schema:familyName Enquist
279 schema:givenName Kerstin
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643342400.87
281 rdf:type schema:Person
282 sg:person.0721051037.52 schema:affiliation grid-institutes:grid.12650.30
283 schema:familyName Lenner
284 schema:givenName Per
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721051037.52
286 rdf:type schema:Person
287 sg:person.0726772160.17 schema:affiliation grid-institutes:grid.4514.4
288 schema:familyName Hemminki
289 schema:givenName Kari
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726772160.17
291 rdf:type schema:Person
292 sg:person.0754410127.60 schema:affiliation grid-institutes:grid.418165.f
293 schema:familyName Pamula-Pilat
294 schema:givenName Jolanta
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754410127.60
296 rdf:type schema:Person
297 sg:person.0756240414.41 schema:affiliation grid-institutes:grid.7497.d
298 schema:familyName Varadi
299 schema:givenName Verena
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756240414.41
301 rdf:type schema:Person
302 sg:person.0770675224.18 schema:affiliation grid-institutes:grid.418165.f
303 schema:familyName Grzybowska
304 schema:givenName Ewa
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770675224.18
306 rdf:type schema:Person
307 sg:pub.10.1007/s10549-007-9496-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038042915
308 https://doi.org/10.1007/s10549-007-9496-9
309 rdf:type schema:CreativeWork
310 sg:pub.10.1007/s10549-008-0089-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1018719994
311 https://doi.org/10.1007/s10549-008-0089-z
312 rdf:type schema:CreativeWork
313 sg:pub.10.1023/a:1015270324325 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021221270
314 https://doi.org/10.1023/a:1015270324325
315 rdf:type schema:CreativeWork
316 sg:pub.10.1038/ejhg.2008.212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021350480
317 https://doi.org/10.1038/ejhg.2008.212
318 rdf:type schema:CreativeWork
319 sg:pub.10.1038/nature03099 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012218108
320 https://doi.org/10.1038/nature03099
321 rdf:type schema:CreativeWork
322 sg:pub.10.1038/ng1861 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016534738
323 https://doi.org/10.1038/ng1861
324 rdf:type schema:CreativeWork
325 sg:pub.10.1038/nrg2345 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021277083
326 https://doi.org/10.1038/nrg2345
327 rdf:type schema:CreativeWork
328 sg:pub.10.1038/nrg2380 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041270694
329 https://doi.org/10.1038/nrg2380
330 rdf:type schema:CreativeWork
331 sg:pub.10.1038/nrm1781 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049912069
332 https://doi.org/10.1038/nrm1781
333 rdf:type schema:CreativeWork
334 sg:pub.10.1038/nrm2858 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028912859
335 https://doi.org/10.1038/nrm2858
336 rdf:type schema:CreativeWork
337 sg:pub.10.1038/onc.2008.212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013053923
338 https://doi.org/10.1038/onc.2008.212
339 rdf:type schema:CreativeWork
340 grid-institutes:grid.12650.30 schema:alternateName Department of Public Health and Clinical Medicine/Nutritional Research, Umeå University, Umeå, Sweden
341 Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden
342 schema:name Department of Public Health and Clinical Medicine/Nutritional Research, Umeå University, Umeå, Sweden
343 Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden
344 rdf:type schema:Organization
345 grid-institutes:grid.24381.3c schema:alternateName Department of Oncology, Karolinska University Hospital, Stockholm, Sweden
346 schema:name Department of Oncology, Karolinska University Hospital, Stockholm, Sweden
347 Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden
348 rdf:type schema:Organization
349 grid-institutes:grid.418165.f schema:alternateName Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland
350 schema:name Center for Translational Research and Molecular Biology of Cancer, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland
351 rdf:type schema:Organization
352 grid-institutes:grid.4514.4 schema:alternateName Center for Primary Health Care Research, Clinical Research Center, Lund University, Malmö, Sweden
353 schema:name Center for Primary Health Care Research, Clinical Research Center, Lund University, Malmö, Sweden
354 Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany
355 rdf:type schema:Organization
356 grid-institutes:grid.7497.d schema:alternateName Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany
357 schema:name Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany
358 rdf:type schema:Organization
 




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


...