Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-05-27

AUTHORS

C. Fernández-Rozadilla, M. Álvarez-Barona, I. Quintana, A. López-Novo, J. Amigo, J. M. Cameselle-Teijeiro, E. Roman, D. Gonzalez, X. Llor, L. Bujanda, X. Bessa, R. Jover, F. Balaguer, A. Castells, S. Castellví-Bel, G. Capellá, A. Carracedo, L. Valle, Clara Ruiz-Ponte

ABSTRACT

Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight. More... »

PAGES

11135

References to SciGraph publications

  • 2020-02-03. We need to talk about the Warburg effect in NATURE METABOLISM
  • 2020-09-02. How Dysregulated Ion Channels and Transporters Take a Hand in Esophageal, Liver, and Colorectal Cancer. in NONE
  • 2014-11-03. TET1 is a tumour suppressor that inhibits colon cancer growth by derepressing inhibitors of the WNT pathway in ONCOGENE
  • 2018-06-14. Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples in BMC BIOINFORMATICS
  • 2016-06-09. The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery in CELLULAR ONCOLOGY
  • 2011-06-05. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia in NATURE
  • 2011-08-05. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins in BMC CANCER
  • 2004-10. Genetic predisposition to colorectal cancer in NATURE REVIEWS CANCER
  • 2012-07-18. Comprehensive molecular characterization of human colon and rectal cancer in NATURE
  • 2011-01-30. Embryonic lethal phenotype reveals a function of TDG in maintaining epigenetic stability in NATURE
  • 2018-01-24. Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-06-22. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer in NATURE COMMUNICATIONS
  • 2014-04-23. Guidelines for investigating causality of sequence variants in human disease in NATURE
  • 2019-06-28. Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis in NATURE COMMUNICATIONS
  • 2006-10-09. Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition in BMC CANCER
  • 2010-04. A method and server for predicting damaging missense mutations in NATURE METHODS
  • Journal

    TITLE

    Scientific Reports

    ISSUE

    1

    VOLUME

    11

    Author Affiliations

  • Grupo de Medicina Xenómica (USC), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
  • Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain
  • Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenomica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
  • Servicio de Anatomía Patológica, USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Hospital Clínico Universitario, Santiago de Compostela, Spain
  • Gastroenterology Department Hospital de Sant Pau, CIBERehd, Escola Universitària D’Infermeria EUI-Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
  • Patología Digestiva, Hospital de Sant Pau, Barcelona, Spain
  • Department of Medicine and Cancer Center, Yale University, New Haven, USA
  • Hospital Universitario de Donostia, Instituto Biodonostia, Universidad del Pais Vasco (UPV/EHU), CIBEREHD, San Sebastián, Spain
  • Gastroenterology Department, Hospital del Mar, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
  • Servicio de Medicina Digestiva, Instituto de Investigación Biomédica (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain
  • Gastroenterology Department, Institut D’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas Y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain
  • Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
  • Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41598-021-90590-z

    DOI

    http://dx.doi.org/10.1038/s41598-021-90590-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1138396140

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34045552


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "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": "Colorectal Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Helicases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Repair Enzymes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA-Binding Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Exome", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Regulation, Neoplastic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Heterogeneity", 
            "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": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Methyltransferases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Poly-ADP-Ribose Binding Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Protein Tyrosine Phosphatase, Non-Receptor Type 13", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Whole Exome Sequencing", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/grid.488911.d", 
              "name": [
                "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fern\u00e1ndez-Rozadilla", 
            "givenName": "C.", 
            "id": "sg:person.0770606235.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770606235.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/grid.488911.d", 
              "name": [
                "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "\u00c1lvarez-Barona", 
            "givenName": "M.", 
            "id": "sg:person.014225057531.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014225057531.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.418701.b", 
              "name": [
                "Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Quintana", 
            "givenName": "I.", 
            "id": "sg:person.015450240554.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015450240554.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/grid.488911.d", 
              "name": [
                "Grupo de Medicina Xen\u00f3mica (USC), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "L\u00f3pez-Novo", 
            "givenName": "A.", 
            "id": "sg:person.014372013707.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014372013707.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xenomica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xenomica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Amigo", 
            "givenName": "J.", 
            "id": "sg:person.01347036673.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347036673.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Servicio de Anatom\u00eda Patol\u00f3gica, USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Hospital Cl\u00ednico Universitario, Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/grid.11794.3a", 
              "name": [
                "Servicio de Anatom\u00eda Patol\u00f3gica, USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Hospital Cl\u00ednico Universitario, Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cameselle-Teijeiro", 
            "givenName": "J. M.", 
            "id": "sg:person.0636413205.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636413205.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Gastroenterology Department Hospital de Sant Pau, CIBERehd, Escola Universit\u00e0ria D\u2019Infermeria EUI-Sant Pau, Universitat Aut\u00f2noma de Barcelona (UAB), Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.7080.f", 
              "name": [
                "Gastroenterology Department Hospital de Sant Pau, CIBERehd, Escola Universit\u00e0ria D\u2019Infermeria EUI-Sant Pau, Universitat Aut\u00f2noma de Barcelona (UAB), Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roman", 
            "givenName": "E.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Patolog\u00eda Digestiva, Hospital de Sant Pau, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413396.a", 
              "name": [
                "Patolog\u00eda Digestiva, Hospital de Sant Pau, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gonzalez", 
            "givenName": "D.", 
            "id": "sg:person.01305207366.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305207366.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medicine and Cancer Center, Yale University, New Haven, USA", 
              "id": "http://www.grid.ac/institutes/grid.47100.32", 
              "name": [
                "Department of Medicine and Cancer Center, Yale University, New Haven, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Llor", 
            "givenName": "X.", 
            "id": "sg:person.0653536023.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653536023.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario de Donostia, Instituto Biodonostia, Universidad del Pais Vasco (UPV/EHU), CIBEREHD, San Sebasti\u00e1n, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Hospital Universitario de Donostia, Instituto Biodonostia, Universidad del Pais Vasco (UPV/EHU), CIBEREHD, San Sebasti\u00e1n, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bujanda", 
            "givenName": "L.", 
            "id": "sg:person.01270567120.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270567120.20"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Gastroenterology Department, Hospital del Mar, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Gastroenterology Department, Hospital del Mar, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bessa", 
            "givenName": "X.", 
            "id": "sg:person.0633441364.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633441364.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Servicio de Medicina Digestiva, Instituto de Investigaci\u00f3n Biom\u00e9dica (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain", 
              "id": "http://www.grid.ac/institutes/grid.411086.a", 
              "name": [
                "Servicio de Medicina Digestiva, Instituto de Investigaci\u00f3n Biom\u00e9dica (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jover", 
            "givenName": "R.", 
            "id": "sg:person.01336606454.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336606454.81"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Balaguer", 
            "givenName": "F.", 
            "id": "sg:person.01257371260.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257371260.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Castells", 
            "givenName": "A.", 
            "id": "sg:person.01261750753.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261750753.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Gastroenterology Department, Institut D\u2019Investigacions Biom\u00e8diques August Pi I Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas Y Digestivas (CIBEREHD), Hospital Cl\u00ednic, Universitat de Barcelona, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Castellv\u00ed-Bel", 
            "givenName": "S.", 
            "id": "sg:person.01175036460.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175036460.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.418284.3", 
              "name": [
                "Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Capell\u00e1", 
            "givenName": "G.", 
            "id": "sg:person.01353352462.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01353352462.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xen\u00f3mica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xen\u00f3mica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Carracedo", 
            "givenName": "A.", 
            "id": "sg:person.010033641400.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010033641400.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.418284.3", 
              "name": [
                "Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Valle", 
            "givenName": "L.", 
            "id": "sg:person.01306507622.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306507622.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xen\u00f3mica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica, SERGAS, Grupo de Medicina Xen\u00f3mica-USC, Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ruiz-Ponte", 
            "givenName": "Clara", 
            "id": "sg:person.01317326011.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317326011.37"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nature09672", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036300730", 
              "https://doi.org/10.1038/nature09672"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13127", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002821806", 
              "https://doi.org/10.1038/nature13127"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s42255-020-0172-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1124546194", 
              "https://doi.org/10.1038/s42255-020-0172-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10113", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008698030", 
              "https://doi.org/10.1038/nature10113"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-017-0086-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1100586574", 
              "https://doi.org/10.1038/s41431-017-0086-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11252", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010619765", 
              "https://doi.org/10.1038/nature11252"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12859-018-2234-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1104554508", 
              "https://doi.org/10.1186/s12859-018-2234-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrc1453", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043058854", 
              "https://doi.org/10.1038/nrc1453"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth0410-248", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007489634", 
              "https://doi.org/10.1038/nmeth0410-248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s13402-016-0284-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024702596", 
              "https://doi.org/10.1007/s13402-016-0284-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41467-019-10649-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1117619672", 
              "https://doi.org/10.1038/s41467-019-10649-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2407-11-339", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052704341", 
              "https://doi.org/10.1186/1471-2407-11-339"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/112_2020_41", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1130512516", 
              "https://doi.org/10.1007/112_2020_41"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ncomms11883", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005369769", 
              "https://doi.org/10.1038/ncomms11883"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2407-6-243", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021056312", 
              "https://doi.org/10.1186/1471-2407-6-243"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/onc.2014.356", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022033003", 
              "https://doi.org/10.1038/onc.2014.356"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2021-05-27", 
        "datePublishedReg": "2021-05-27", 
        "description": "Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/s41598-021-90590-z", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.9666896", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.9667966", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.9667223", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.8098581", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1045337", 
            "issn": [
              "2045-2322"
            ], 
            "name": "Scientific Reports", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "11"
          }
        ], 
        "keywords": [
          "early-onset CRC patients", 
          "colorectal cancer", 
          "CRC patients", 
          "early-onset patients", 
          "genetic variants", 
          "potential risk alleles", 
          "CRC onset", 
          "youngest case", 
          "CRC development", 
          "independent patients", 
          "patients", 
          "truncating variants", 
          "risk alleles", 
          "exome sequencing", 
          "robust studies", 
          "novel genetic variants", 
          "disease development", 
          "candidate variants", 
          "cancer", 
          "molecular heterogeneity", 
          "disease", 
          "TDG gene", 
          "complex diseases", 
          "genetic heterogeneity", 
          "high impact variants", 
          "higher number", 
          "variants", 
          "genes", 
          "study", 
          "onset", 
          "CHD1L", 
          "functional analysis", 
          "ERCC6", 
          "omics approaches", 
          "heterogeneity", 
          "novel functional analyses", 
          "individuals", 
          "PTPN13", 
          "alleles", 
          "development", 
          "cases", 
          "sequencing", 
          "changes", 
          "extended list", 
          "genetics", 
          "candidates", 
          "list", 
          "number", 
          "tendency", 
          "analysis", 
          "results", 
          "Chad", 
          "TDG", 
          "insights", 
          "Tgs1", 
          "approach", 
          "complementary insights", 
          "nature", 
          "spectra", 
          "environment", 
          "idea", 
          "high penetrance changes", 
          "penetrance changes", 
          "prompt disease development", 
          "IGTB7", 
          "SPATA20", 
          "onset CRC patients", 
          "early-onset CRC development"
        ], 
        "name": "Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer", 
        "pagination": "11135", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1138396140"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41598-021-90590-z"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "34045552"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41598-021-90590-z", 
          "https://app.dimensions.ai/details/publication/pub.1138396140"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T19:03", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_902.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/s41598-021-90590-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.10.1038/s41598-021-90590-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.10.1038/s41598-021-90590-z'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-021-90590-z'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-021-90590-z'


     

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

    434 TRIPLES      22 PREDICATES      129 URIs      103 LITERALS      24 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41598-021-90590-z schema:about N00db827f58424526b523b6d6f8fadca3
    2 N08008cfc8a6f4992b681ee1056f1af65
    3 N1904bed6a6aa46369a8a51d59b5bbcde
    4 N2ab8b1faedea44bfbc14ad1fd1d3083d
    5 N331b3f240bcb4df687349b8c0fa1e163
    6 N7828e08929574969b4a8900cb6bfed2c
    7 N7fa0c1b31a4c4a6f912252977db1cdd8
    8 N85575c0377a342609bc281fcf65ff1b4
    9 N8f7a266591f84fb1940bb48843680cf0
    10 N93056fbdc9f6459d9e4ee116d282b966
    11 N949013910b0a46b3bedbadd83efe5b3c
    12 N958e72652c6647f0a724bdbdd8849fe6
    13 Na11466483e334543abcffb61f290174d
    14 Na536a0abdf314ff683cbf1b535cba2d1
    15 Nf3adf81ef0bf421f9a7e7387c1dd15ee
    16 Nf978e60c5a9d489a8f51ebfcc798d620
    17 Nff2dc1398f4a487d904e9fee89834180
    18 anzsrc-for:06
    19 anzsrc-for:0604
    20 anzsrc-for:11
    21 anzsrc-for:1112
    22 schema:author N8f23573a8e5a48aabf9f7e0f208c329d
    23 schema:citation sg:pub.10.1007/112_2020_41
    24 sg:pub.10.1007/s13402-016-0284-6
    25 sg:pub.10.1038/nature09672
    26 sg:pub.10.1038/nature10113
    27 sg:pub.10.1038/nature11252
    28 sg:pub.10.1038/nature13127
    29 sg:pub.10.1038/ncomms11883
    30 sg:pub.10.1038/nmeth0410-248
    31 sg:pub.10.1038/nrc1453
    32 sg:pub.10.1038/onc.2014.356
    33 sg:pub.10.1038/s41431-017-0086-y
    34 sg:pub.10.1038/s41467-019-10649-4
    35 sg:pub.10.1038/s42255-020-0172-2
    36 sg:pub.10.1186/1471-2407-11-339
    37 sg:pub.10.1186/1471-2407-6-243
    38 sg:pub.10.1186/s12859-018-2234-y
    39 schema:datePublished 2021-05-27
    40 schema:datePublishedReg 2021-05-27
    41 schema:description Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight.
    42 schema:genre article
    43 schema:inLanguage en
    44 schema:isAccessibleForFree true
    45 schema:isPartOf N94ab3393af40441190b839cd3297737e
    46 Ncdd76d2c5a654a9aadf9e046294ff62d
    47 sg:journal.1045337
    48 schema:keywords CHD1L
    49 CRC development
    50 CRC onset
    51 CRC patients
    52 Chad
    53 ERCC6
    54 IGTB7
    55 PTPN13
    56 SPATA20
    57 TDG
    58 TDG gene
    59 Tgs1
    60 alleles
    61 analysis
    62 approach
    63 cancer
    64 candidate variants
    65 candidates
    66 cases
    67 changes
    68 colorectal cancer
    69 complementary insights
    70 complex diseases
    71 development
    72 disease
    73 disease development
    74 early-onset CRC development
    75 early-onset CRC patients
    76 early-onset patients
    77 environment
    78 exome sequencing
    79 extended list
    80 functional analysis
    81 genes
    82 genetic heterogeneity
    83 genetic variants
    84 genetics
    85 heterogeneity
    86 high impact variants
    87 high penetrance changes
    88 higher number
    89 idea
    90 independent patients
    91 individuals
    92 insights
    93 list
    94 molecular heterogeneity
    95 nature
    96 novel functional analyses
    97 novel genetic variants
    98 number
    99 omics approaches
    100 onset
    101 onset CRC patients
    102 patients
    103 penetrance changes
    104 potential risk alleles
    105 prompt disease development
    106 results
    107 risk alleles
    108 robust studies
    109 sequencing
    110 spectra
    111 study
    112 tendency
    113 truncating variants
    114 variants
    115 youngest case
    116 schema:name Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
    117 schema:pagination 11135
    118 schema:productId N53433c92a2c848d3bc4f30c2e506d562
    119 N8f14f03b3e5245d5a6d245c052bca0a9
    120 N98a94f2e9a4d4f83872dd21aaf2fecc1
    121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1138396140
    122 https://doi.org/10.1038/s41598-021-90590-z
    123 schema:sdDatePublished 2022-01-01T19:03
    124 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    125 schema:sdPublisher N8ab1349255c447dea95b4dd3888631c8
    126 schema:url https://doi.org/10.1038/s41598-021-90590-z
    127 sgo:license sg:explorer/license/
    128 sgo:sdDataset articles
    129 rdf:type schema:ScholarlyArticle
    130 N00db827f58424526b523b6d6f8fadca3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    131 schema:name Whole Exome Sequencing
    132 rdf:type schema:DefinedTerm
    133 N08008cfc8a6f4992b681ee1056f1af65 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Humans
    135 rdf:type schema:DefinedTerm
    136 N14319dcbb7f241faa9df7581d9c24b5e rdf:first Nb907be8d03324b628cce2cff28c2e8dc
    137 rdf:rest N862f900ac3d04a498f7554492f5e336e
    138 N1904bed6a6aa46369a8a51d59b5bbcde schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Protein Tyrosine Phosphatase, Non-Receptor Type 13
    140 rdf:type schema:DefinedTerm
    141 N2ab8b1faedea44bfbc14ad1fd1d3083d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name DNA-Binding Proteins
    143 rdf:type schema:DefinedTerm
    144 N32afb77bc1014780b4ba374a83879900 rdf:first sg:person.014225057531.34
    145 rdf:rest Nd4884abc5b56438a912aa5a458d68668
    146 N331b3f240bcb4df687349b8c0fa1e163 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Female
    148 rdf:type schema:DefinedTerm
    149 N39710e6252564997bd6f87d197873881 rdf:first sg:person.01270567120.20
    150 rdf:rest Ncf4ad0dbb18740d19b671fa49088439b
    151 N53433c92a2c848d3bc4f30c2e506d562 schema:name doi
    152 schema:value 10.1038/s41598-021-90590-z
    153 rdf:type schema:PropertyValue
    154 N5d8ca83ca3ad4b33bb8705a54ab3d765 rdf:first sg:person.01175036460.93
    155 rdf:rest N77796ea2cbef40ab8f32ec02deaec7b3
    156 N6421b386588f465ea6a60a62572071a3 rdf:first sg:person.014372013707.95
    157 rdf:rest N9de8c664f1f8449f96e19c0132846978
    158 N711eccdab9f348f997155b6e5b7c9f9e rdf:first sg:person.01261750753.24
    159 rdf:rest N5d8ca83ca3ad4b33bb8705a54ab3d765
    160 N77796ea2cbef40ab8f32ec02deaec7b3 rdf:first sg:person.01353352462.47
    161 rdf:rest Nae34e21b9182417f978df781f0e7d2fc
    162 N7828e08929574969b4a8900cb6bfed2c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    163 schema:name Colorectal Neoplasms
    164 rdf:type schema:DefinedTerm
    165 N7fa0c1b31a4c4a6f912252977db1cdd8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    166 schema:name DNA Helicases
    167 rdf:type schema:DefinedTerm
    168 N85575c0377a342609bc281fcf65ff1b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    169 schema:name Genetic Predisposition to Disease
    170 rdf:type schema:DefinedTerm
    171 N862f900ac3d04a498f7554492f5e336e rdf:first sg:person.01305207366.29
    172 rdf:rest Nc96c35bbc11f4f638f94fcae2962a395
    173 N8ab1349255c447dea95b4dd3888631c8 schema:name Springer Nature - SN SciGraph project
    174 rdf:type schema:Organization
    175 N8f14f03b3e5245d5a6d245c052bca0a9 schema:name dimensions_id
    176 schema:value pub.1138396140
    177 rdf:type schema:PropertyValue
    178 N8f23573a8e5a48aabf9f7e0f208c329d rdf:first sg:person.0770606235.71
    179 rdf:rest N32afb77bc1014780b4ba374a83879900
    180 N8f7a266591f84fb1940bb48843680cf0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    181 schema:name Exome
    182 rdf:type schema:DefinedTerm
    183 N93056fbdc9f6459d9e4ee116d282b966 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    184 schema:name Middle Aged
    185 rdf:type schema:DefinedTerm
    186 N949013910b0a46b3bedbadd83efe5b3c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    187 schema:name Gene Expression Regulation, Neoplastic
    188 rdf:type schema:DefinedTerm
    189 N94ab3393af40441190b839cd3297737e schema:issueNumber 1
    190 rdf:type schema:PublicationIssue
    191 N958e72652c6647f0a724bdbdd8849fe6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Methyltransferases
    193 rdf:type schema:DefinedTerm
    194 N96a3c0430d5e44b89710edee124c956b rdf:first sg:person.01317326011.37
    195 rdf:rest rdf:nil
    196 N98a94f2e9a4d4f83872dd21aaf2fecc1 schema:name pubmed_id
    197 schema:value 34045552
    198 rdf:type schema:PropertyValue
    199 N9bf24be0219243d79ccbdecea8bf2055 rdf:first sg:person.01257371260.15
    200 rdf:rest N711eccdab9f348f997155b6e5b7c9f9e
    201 N9de8c664f1f8449f96e19c0132846978 rdf:first sg:person.01347036673.97
    202 rdf:rest Nba90a95c5e5c4cd5975eda0af8414d2e
    203 Na11466483e334543abcffb61f290174d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    204 schema:name DNA Repair Enzymes
    205 rdf:type schema:DefinedTerm
    206 Na536a0abdf314ff683cbf1b535cba2d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    207 schema:name Genetic Heterogeneity
    208 rdf:type schema:DefinedTerm
    209 Nae34e21b9182417f978df781f0e7d2fc rdf:first sg:person.010033641400.26
    210 rdf:rest Nd2dc0a0774a04e39acaaa3e9336171d9
    211 Nb907be8d03324b628cce2cff28c2e8dc schema:affiliation grid-institutes:grid.7080.f
    212 schema:familyName Roman
    213 schema:givenName E.
    214 rdf:type schema:Person
    215 Nba90a95c5e5c4cd5975eda0af8414d2e rdf:first sg:person.0636413205.14
    216 rdf:rest N14319dcbb7f241faa9df7581d9c24b5e
    217 Nbeb4e34a294b45b28db617cc84c0e399 rdf:first sg:person.01336606454.81
    218 rdf:rest N9bf24be0219243d79ccbdecea8bf2055
    219 Nc96c35bbc11f4f638f94fcae2962a395 rdf:first sg:person.0653536023.58
    220 rdf:rest N39710e6252564997bd6f87d197873881
    221 Ncdd76d2c5a654a9aadf9e046294ff62d schema:volumeNumber 11
    222 rdf:type schema:PublicationVolume
    223 Ncf4ad0dbb18740d19b671fa49088439b rdf:first sg:person.0633441364.93
    224 rdf:rest Nbeb4e34a294b45b28db617cc84c0e399
    225 Nd2dc0a0774a04e39acaaa3e9336171d9 rdf:first sg:person.01306507622.48
    226 rdf:rest N96a3c0430d5e44b89710edee124c956b
    227 Nd4884abc5b56438a912aa5a458d68668 rdf:first sg:person.015450240554.44
    228 rdf:rest N6421b386588f465ea6a60a62572071a3
    229 Nf3adf81ef0bf421f9a7e7387c1dd15ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    230 schema:name Adult
    231 rdf:type schema:DefinedTerm
    232 Nf978e60c5a9d489a8f51ebfcc798d620 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    233 schema:name Male
    234 rdf:type schema:DefinedTerm
    235 Nff2dc1398f4a487d904e9fee89834180 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    236 schema:name Poly-ADP-Ribose Binding Proteins
    237 rdf:type schema:DefinedTerm
    238 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    239 schema:name Biological Sciences
    240 rdf:type schema:DefinedTerm
    241 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    242 schema:name Genetics
    243 rdf:type schema:DefinedTerm
    244 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    245 schema:name Medical and Health Sciences
    246 rdf:type schema:DefinedTerm
    247 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
    248 schema:name Oncology and Carcinogenesis
    249 rdf:type schema:DefinedTerm
    250 sg:grant.8098581 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-021-90590-z
    251 rdf:type schema:MonetaryGrant
    252 sg:grant.9666896 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-021-90590-z
    253 rdf:type schema:MonetaryGrant
    254 sg:grant.9667223 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-021-90590-z
    255 rdf:type schema:MonetaryGrant
    256 sg:grant.9667966 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-021-90590-z
    257 rdf:type schema:MonetaryGrant
    258 sg:journal.1045337 schema:issn 2045-2322
    259 schema:name Scientific Reports
    260 schema:publisher Springer Nature
    261 rdf:type schema:Periodical
    262 sg:person.010033641400.26 schema:affiliation grid-institutes:None
    263 schema:familyName Carracedo
    264 schema:givenName A.
    265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010033641400.26
    266 rdf:type schema:Person
    267 sg:person.01175036460.93 schema:affiliation grid-institutes:None
    268 schema:familyName Castellví-Bel
    269 schema:givenName S.
    270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175036460.93
    271 rdf:type schema:Person
    272 sg:person.01257371260.15 schema:affiliation grid-institutes:None
    273 schema:familyName Balaguer
    274 schema:givenName F.
    275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257371260.15
    276 rdf:type schema:Person
    277 sg:person.01261750753.24 schema:affiliation grid-institutes:None
    278 schema:familyName Castells
    279 schema:givenName A.
    280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261750753.24
    281 rdf:type schema:Person
    282 sg:person.01270567120.20 schema:affiliation grid-institutes:None
    283 schema:familyName Bujanda
    284 schema:givenName L.
    285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270567120.20
    286 rdf:type schema:Person
    287 sg:person.01305207366.29 schema:affiliation grid-institutes:grid.413396.a
    288 schema:familyName Gonzalez
    289 schema:givenName D.
    290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305207366.29
    291 rdf:type schema:Person
    292 sg:person.01306507622.48 schema:affiliation grid-institutes:grid.418284.3
    293 schema:familyName Valle
    294 schema:givenName L.
    295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306507622.48
    296 rdf:type schema:Person
    297 sg:person.01317326011.37 schema:affiliation grid-institutes:None
    298 schema:familyName Ruiz-Ponte
    299 schema:givenName Clara
    300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317326011.37
    301 rdf:type schema:Person
    302 sg:person.01336606454.81 schema:affiliation grid-institutes:grid.411086.a
    303 schema:familyName Jover
    304 schema:givenName R.
    305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336606454.81
    306 rdf:type schema:Person
    307 sg:person.01347036673.97 schema:affiliation grid-institutes:None
    308 schema:familyName Amigo
    309 schema:givenName J.
    310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347036673.97
    311 rdf:type schema:Person
    312 sg:person.01353352462.47 schema:affiliation grid-institutes:grid.418284.3
    313 schema:familyName Capellá
    314 schema:givenName G.
    315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01353352462.47
    316 rdf:type schema:Person
    317 sg:person.014225057531.34 schema:affiliation grid-institutes:grid.488911.d
    318 schema:familyName Álvarez-Barona
    319 schema:givenName M.
    320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014225057531.34
    321 rdf:type schema:Person
    322 sg:person.014372013707.95 schema:affiliation grid-institutes:grid.488911.d
    323 schema:familyName López-Novo
    324 schema:givenName A.
    325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014372013707.95
    326 rdf:type schema:Person
    327 sg:person.015450240554.44 schema:affiliation grid-institutes:grid.418701.b
    328 schema:familyName Quintana
    329 schema:givenName I.
    330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015450240554.44
    331 rdf:type schema:Person
    332 sg:person.0633441364.93 schema:affiliation grid-institutes:None
    333 schema:familyName Bessa
    334 schema:givenName X.
    335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633441364.93
    336 rdf:type schema:Person
    337 sg:person.0636413205.14 schema:affiliation grid-institutes:grid.11794.3a
    338 schema:familyName Cameselle-Teijeiro
    339 schema:givenName J. M.
    340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636413205.14
    341 rdf:type schema:Person
    342 sg:person.0653536023.58 schema:affiliation grid-institutes:grid.47100.32
    343 schema:familyName Llor
    344 schema:givenName X.
    345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653536023.58
    346 rdf:type schema:Person
    347 sg:person.0770606235.71 schema:affiliation grid-institutes:grid.488911.d
    348 schema:familyName Fernández-Rozadilla
    349 schema:givenName C.
    350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770606235.71
    351 rdf:type schema:Person
    352 sg:pub.10.1007/112_2020_41 schema:sameAs https://app.dimensions.ai/details/publication/pub.1130512516
    353 https://doi.org/10.1007/112_2020_41
    354 rdf:type schema:CreativeWork
    355 sg:pub.10.1007/s13402-016-0284-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024702596
    356 https://doi.org/10.1007/s13402-016-0284-6
    357 rdf:type schema:CreativeWork
    358 sg:pub.10.1038/nature09672 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036300730
    359 https://doi.org/10.1038/nature09672
    360 rdf:type schema:CreativeWork
    361 sg:pub.10.1038/nature10113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008698030
    362 https://doi.org/10.1038/nature10113
    363 rdf:type schema:CreativeWork
    364 sg:pub.10.1038/nature11252 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010619765
    365 https://doi.org/10.1038/nature11252
    366 rdf:type schema:CreativeWork
    367 sg:pub.10.1038/nature13127 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002821806
    368 https://doi.org/10.1038/nature13127
    369 rdf:type schema:CreativeWork
    370 sg:pub.10.1038/ncomms11883 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005369769
    371 https://doi.org/10.1038/ncomms11883
    372 rdf:type schema:CreativeWork
    373 sg:pub.10.1038/nmeth0410-248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007489634
    374 https://doi.org/10.1038/nmeth0410-248
    375 rdf:type schema:CreativeWork
    376 sg:pub.10.1038/nrc1453 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043058854
    377 https://doi.org/10.1038/nrc1453
    378 rdf:type schema:CreativeWork
    379 sg:pub.10.1038/onc.2014.356 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022033003
    380 https://doi.org/10.1038/onc.2014.356
    381 rdf:type schema:CreativeWork
    382 sg:pub.10.1038/s41431-017-0086-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1100586574
    383 https://doi.org/10.1038/s41431-017-0086-y
    384 rdf:type schema:CreativeWork
    385 sg:pub.10.1038/s41467-019-10649-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1117619672
    386 https://doi.org/10.1038/s41467-019-10649-4
    387 rdf:type schema:CreativeWork
    388 sg:pub.10.1038/s42255-020-0172-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1124546194
    389 https://doi.org/10.1038/s42255-020-0172-2
    390 rdf:type schema:CreativeWork
    391 sg:pub.10.1186/1471-2407-11-339 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052704341
    392 https://doi.org/10.1186/1471-2407-11-339
    393 rdf:type schema:CreativeWork
    394 sg:pub.10.1186/1471-2407-6-243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021056312
    395 https://doi.org/10.1186/1471-2407-6-243
    396 rdf:type schema:CreativeWork
    397 sg:pub.10.1186/s12859-018-2234-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1104554508
    398 https://doi.org/10.1186/s12859-018-2234-y
    399 rdf:type schema:CreativeWork
    400 grid-institutes:None schema:alternateName Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenomica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
    401 Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain
    402 Gastroenterology Department, Hospital del Mar, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
    403 Gastroenterology Department, Institut D’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas Y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain
    404 Hospital Universitario de Donostia, Instituto Biodonostia, Universidad del Pais Vasco (UPV/EHU), CIBEREHD, San Sebastián, Spain
    405 schema:name Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenomica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
    406 Fundación Publica Galega de Medicina Xenómica, SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain
    407 Gastroenterology Department, Hospital del Mar, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
    408 Gastroenterology Department, Institut D’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas Y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain
    409 Hospital Universitario de Donostia, Instituto Biodonostia, Universidad del Pais Vasco (UPV/EHU), CIBEREHD, San Sebastián, Spain
    410 rdf:type schema:Organization
    411 grid-institutes:grid.11794.3a schema:alternateName Servicio de Anatomía Patológica, USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Hospital Clínico Universitario, Santiago de Compostela, Spain
    412 schema:name Servicio de Anatomía Patológica, USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Hospital Clínico Universitario, Santiago de Compostela, Spain
    413 rdf:type schema:Organization
    414 grid-institutes:grid.411086.a schema:alternateName Servicio de Medicina Digestiva, Instituto de Investigación Biomédica (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain
    415 schema:name Servicio de Medicina Digestiva, Instituto de Investigación Biomédica (ISABIAL), Hospital General Universitario de Alicante, Alicante, Spain
    416 rdf:type schema:Organization
    417 grid-institutes:grid.413396.a schema:alternateName Patología Digestiva, Hospital de Sant Pau, Barcelona, Spain
    418 schema:name Patología Digestiva, Hospital de Sant Pau, Barcelona, Spain
    419 rdf:type schema:Organization
    420 grid-institutes:grid.418284.3 schema:alternateName Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    421 schema:name Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    422 rdf:type schema:Organization
    423 grid-institutes:grid.418701.b schema:alternateName Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain
    424 schema:name Hereditary Cancer Program, Catalan Institute of Oncology, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain
    425 rdf:type schema:Organization
    426 grid-institutes:grid.47100.32 schema:alternateName Department of Medicine and Cancer Center, Yale University, New Haven, USA
    427 schema:name Department of Medicine and Cancer Center, Yale University, New Haven, USA
    428 rdf:type schema:Organization
    429 grid-institutes:grid.488911.d schema:alternateName Grupo de Medicina Xenómica (USC), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
    430 schema:name Grupo de Medicina Xenómica (USC), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain
    431 rdf:type schema:Organization
    432 grid-institutes:grid.7080.f schema:alternateName Gastroenterology Department Hospital de Sant Pau, CIBERehd, Escola Universitària D’Infermeria EUI-Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
    433 schema:name Gastroenterology Department Hospital de Sant Pau, CIBERehd, Escola Universitària D’Infermeria EUI-Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
    434 rdf:type schema:Organization
     




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


    ...