Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-02

AUTHORS

María J. García, Victoria Fernández, Ana Osorio, Alicia Barroso, Gemma LLort, Conxi Lázaro, Ignacio Blanco, Trinidad Caldés, Miguel de la Hoya, Teresa Ramón y Cajal, Carmen Alonso, María-Isabel Tejada, Carlos San Román, Luis Robles-Díaz, Miguel Urioste, Javier Benítez

ABSTRACT

Recent reports have shown that mutations in the FANCJ/BRIP1 and FANCN/PALB2 Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the PALB2-associated families and tumors. The role of FANCB in breast cancer susceptibility has not been tested to date. Likewise PALB2 mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of FANCB and PALB2 in 95 index cases of BRCA1/2-negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent PALB2 mutations in 725 additional probands. Pathogenic changes were not detected in FANCB. We found a novel PALB2 truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent PALB2 mutations did not reveal any carrier patient. We report the first example of LOH occurring in a PALB2-associated tumor. Our results rule out a major contribution of FANCB to hereditary breast cancer. Our data are consistent with the notion of individually rare PALB2 mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that PALB2 loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a PALB2-breast cancer phenotype. More... »

PAGES

545-551

References to SciGraph publications

  • 2006-12. BACH1 Ser919Pro variant and breast cancer risk in BMC CANCER
  • 2007-10. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins in NATURE REVIEWS GENETICS
  • 2006-11. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles in NATURE GENETICS
  • 2001-06. The emerging genetic and molecular basis of Fanconi anaemia in NATURE REVIEWS GENETICS
  • 2007-02. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer in NATURE GENETICS
  • 2007-12. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling in BREAST CANCER RESEARCH AND TREATMENT
  • 2007-02. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene in NATURE GENETICS
  • 1993-06. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews in NATURE GENETICS
  • 2000-04. Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families in BRITISH JOURNAL OF CANCER
  • 2006-09. Fanconi anaemia genes and susceptibility to cancer in ONCOGENE
  • 2007-03. A recurrent mutation in PALB2 in Finnish cancer families in NATURE
  • 2007-02. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 in NATURE GENETICS
  • 2005-12. Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer in BREAST CANCER RESEARCH
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10549-008-9945-0

    DOI

    http://dx.doi.org/10.1007/s10549-008-9945-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1025945672

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18302019


    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/2008/1112", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Oncology and Carcinogenesis", 
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Breast Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Breast Neoplasms, Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Fanconi Anemia Complementation Group N Protein", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Fanconi Anemia Complementation Group Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genes, BRCA1", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genes, BRCA2", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Testing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Loss of Heterozygosity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neoplastic Syndromes, Hereditary", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nuclear Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ovarian Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Spain", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Tumor Suppressor Proteins", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Instituto de Salud Carlos III", 
              "id": "https://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain", 
                "Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Garc\u00eda", 
            "givenName": "Mar\u00eda J.", 
            "id": "sg:person.0776425360.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776425360.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Spanish National Cancer Research Centre", 
              "id": "https://www.grid.ac/institutes/grid.7719.8", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fern\u00e1ndez", 
            "givenName": "Victoria", 
            "id": "sg:person.0724776575.98", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724776575.98"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Spanish National Cancer Research Centre", 
              "id": "https://www.grid.ac/institutes/grid.7719.8", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Osorio", 
            "givenName": "Ana", 
            "id": "sg:person.010124473420.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010124473420.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Spanish National Cancer Research Centre", 
              "id": "https://www.grid.ac/institutes/grid.7719.8", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Barroso", 
            "givenName": "Alicia", 
            "id": "sg:person.0760730104.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760730104.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut Catal\u00e0 d'Oncologia", 
              "id": "https://www.grid.ac/institutes/grid.418701.b", 
              "name": [
                "Genetic Counseling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology (ICO), 08907, L\u2019Hospitalet, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "LLort", 
            "givenName": "Gemma", 
            "id": "sg:person.01035344421.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035344421.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut Catal\u00e0 d'Oncologia", 
              "id": "https://www.grid.ac/institutes/grid.418701.b", 
              "name": [
                "Translational Research Laboratory, Catalan Institute of Oncology (ICO), 08907, L\u2019Hospitalet, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "L\u00e1zaro", 
            "givenName": "Conxi", 
            "id": "sg:person.01204425567.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204425567.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut Catal\u00e0 d'Oncologia", 
              "id": "https://www.grid.ac/institutes/grid.418701.b", 
              "name": [
                "Genetic Counseling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology (ICO), 08907, L\u2019Hospitalet, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Blanco", 
            "givenName": "Ignacio", 
            "id": "sg:person.011272620520.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011272620520.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Cl\u00ednico San Carlos", 
              "id": "https://www.grid.ac/institutes/grid.411068.a", 
              "name": [
                "Laboratory of Molecular Oncology, San Carlos University Hospital, 28040, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cald\u00e9s", 
            "givenName": "Trinidad", 
            "id": "sg:person.01313240102.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313240102.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Cl\u00ednico San Carlos", 
              "id": "https://www.grid.ac/institutes/grid.411068.a", 
              "name": [
                "Laboratory of Molecular Oncology, San Carlos University Hospital, 28040, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de la Hoya", 
            "givenName": "Miguel", 
            "id": "sg:person.01040410440.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040410440.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Sant Pau", 
              "id": "https://www.grid.ac/institutes/grid.413396.a", 
              "name": [
                "Service of Medical Oncology, La Santa Creu i Sant Pau Hospital, 08025, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ram\u00f3n y Cajal", 
            "givenName": "Teresa", 
            "id": "sg:person.0614411275.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614411275.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Sant Pau", 
              "id": "https://www.grid.ac/institutes/grid.413396.a", 
              "name": [
                "Service of Medical Oncology, La Santa Creu i Sant Pau Hospital, 08025, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Alonso", 
            "givenName": "Carmen", 
            "id": "sg:person.0662524475.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662524475.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Cruces", 
              "id": "https://www.grid.ac/institutes/grid.411232.7", 
              "name": [
                "Molecular Genetics Laboratory, Cruces Hospital, 48903, Baracaldo, Bilbao, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tejada", 
            "givenName": "Mar\u00eda-Isabel", 
            "id": "sg:person.0662453064.98", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662453064.98"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Ram\u00f3n y Cajal", 
              "id": "https://www.grid.ac/institutes/grid.411347.4", 
              "name": [
                "Genetics Department, Ram\u00f3n y Cajal Hospital, 28034, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "San Rom\u00e1n", 
            "givenName": "Carlos", 
            "id": "sg:person.01202117102.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202117102.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario 12 De Octubre", 
              "id": "https://www.grid.ac/institutes/grid.144756.5", 
              "name": [
                "Oncology Department, Doce de Octubre Hospital, 28041, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Robles-D\u00edaz", 
            "givenName": "Luis", 
            "id": "sg:person.01045066275.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045066275.38"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Spanish National Cancer Research Centre", 
              "id": "https://www.grid.ac/institutes/grid.7719.8", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Urioste", 
            "givenName": "Miguel", 
            "id": "sg:person.0765665046.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765665046.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Instituto de Salud Carlos III", 
              "id": "https://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fern\u00e1ndez Almagro 3, 28029, Madrid, Spain", 
                "Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ben\u00edtez", 
            "givenName": "Javier", 
            "id": "sg:person.01333446703.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333446703.24"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001566097"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0701724104", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005396371"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1942", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005614815", 
              "https://doi.org/10.1038/ng1942"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1942", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005614815", 
              "https://doi.org/10.1038/ng1942"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10262", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006038446"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1073834", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010676859"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2407-6-19", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011281190", 
              "https://doi.org/10.1186/1471-2407-6-19"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-06-1418", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012784187"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0959-8049(02)00498-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018965798"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0959-8049(02)00498-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018965798"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2007.03.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021461597"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022261638", 
              "https://doi.org/10.1038/ng1959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1959", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022261638", 
              "https://doi.org/10.1038/ng1959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05609", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022412135", 
              "https://doi.org/10.1038/nature05609"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddm026", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023445606"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/bcr1336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026862561", 
              "https://doi.org/10.1186/bcr1336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/bcr1336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026862561", 
              "https://doi.org/10.1186/bcr1336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/bcr1336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026862561", 
              "https://doi.org/10.1186/bcr1336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2159", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028849796", 
              "https://doi.org/10.1038/nrg2159"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0693-202", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029661254", 
              "https://doi.org/10.1038/ng0693-202"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1097-0215(20010101)91:1<137::aid-ijc1020>3.0.co;2-r", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030779640"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1947", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030963670", 
              "https://doi.org/10.1038/ng1947"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1947", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030963670", 
              "https://doi.org/10.1038/ng1947"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1902", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032659958", 
              "https://doi.org/10.1038/ng1902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1902", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032659958", 
              "https://doi.org/10.1038/ng1902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-006-9489-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043758927", 
              "https://doi.org/10.1007/s10549-006-9489-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-07-1501", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045611969"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35076590", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046006966", 
              "https://doi.org/10.1038/35076590"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35076590", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046006966", 
              "https://doi.org/10.1038/35076590"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047294865"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10260", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048662461"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1054/bjoc.1999.1089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049663955", 
              "https://doi.org/10.1054/bjoc.1999.1089"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1182/blood-2004-07-2588", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049796316"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1209878", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050628681", 
              "https://doi.org/10.1038/sj.onc.1209878"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1209878", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050628681", 
              "https://doi.org/10.1038/sj.onc.1209878"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ijc.10214", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052369175"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1076617311", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2009-02", 
        "datePublishedReg": "2009-02-01", 
        "description": "Recent reports have shown that mutations in the FANCJ/BRIP1 and FANCN/PALB2 Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the PALB2-associated families and tumors. The role of FANCB in breast cancer susceptibility has not been tested to date. Likewise PALB2 mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of FANCB and PALB2 in 95 index cases of BRCA1/2-negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent PALB2 mutations in 725 additional probands. Pathogenic changes were not detected in FANCB. We found a novel PALB2 truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent PALB2 mutations did not reveal any carrier patient. We report the first example of LOH occurring in a PALB2-associated tumor. Our results rule out a major contribution of FANCB to hereditary breast cancer. Our data are consistent with the notion of individually rare PALB2 mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that PALB2 loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a PALB2-breast cancer phenotype.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s10549-008-9945-0", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1092777", 
            "issn": [
              "0167-6806", 
              "1573-7217"
            ], 
            "name": "Breast Cancer Research and Treatment", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "113"
          }
        ], 
        "name": "Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families", 
        "pagination": "545-551", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "7b9adef989dbe28c493c9d3d8f4d4b64d2077ea44d163bcf52455aff9fc407e7"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "18302019"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "8111104"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s10549-008-9945-0"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1025945672"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s10549-008-9945-0", 
          "https://app.dimensions.ai/details/publication/pub.1025945672"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T01:07", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8697_00000513.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1007%2Fs10549-008-9945-0"
      }
    ]
     

    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/s10549-008-9945-0'

    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/s10549-008-9945-0'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10549-008-9945-0'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10549-008-9945-0'


     

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

    377 TRIPLES      21 PREDICATES      78 URIs      42 LITERALS      30 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s10549-008-9945-0 schema:about N05f30ca1ee924e3d9dd818e77fac8f83
    2 N152ea65ec50945b6a3a5c0a2a449d73d
    3 N27c8d633633b43f59422d8f015e53661
    4 N43ba9c728b8b4aa49f5091520671663e
    5 N43f498b47d3d48e4b384c71ddcdcb1ac
    6 N470d91ee7748420590be1791c7599973
    7 N4b9e991abd0945c99338a8a5527f7f1d
    8 N5ad1cdbc52894cb4a1c011ccfeed273a
    9 N640e7969a48346558485c25d81de482b
    10 N6616b3269da84d46844cf232227ebb54
    11 N697a741b7ffd451e86e740e430e1fd90
    12 N8158087b002849abb4b8140cde0acc16
    13 N8d3677009a914b639f43ebe7ff032ce5
    14 N9b910b433aa249d7a6eeb53984071a0f
    15 Nb2f59742505f442481486d0b8b3e7161
    16 Nbc679000432b48f3af7e41f62af3b743
    17 Nc87052c74f4346da92fbff033bdf4cca
    18 Ncc6c723ff2764e85aa26edbd2b1e3cfa
    19 Nda34d42689cd4fa1852c337239b0eaea
    20 Necd56f615fea4f31a63eba3f5eb03e37
    21 Nf92b50ed817749588671a30f680ed10b
    22 anzsrc-for:11
    23 anzsrc-for:1112
    24 schema:author Nacda2f783fe345e1bbff07559d0d37c0
    25 schema:citation sg:pub.10.1007/s10549-006-9489-0
    26 sg:pub.10.1038/35076590
    27 sg:pub.10.1038/nature05609
    28 sg:pub.10.1038/ng0693-202
    29 sg:pub.10.1038/ng1902
    30 sg:pub.10.1038/ng1942
    31 sg:pub.10.1038/ng1947
    32 sg:pub.10.1038/ng1959
    33 sg:pub.10.1038/nrg2159
    34 sg:pub.10.1038/sj.onc.1209878
    35 sg:pub.10.1054/bjoc.1999.1089
    36 sg:pub.10.1186/1471-2407-6-19
    37 sg:pub.10.1186/bcr1336
    38 https://app.dimensions.ai/details/publication/pub.1076617311
    39 https://doi.org/10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n
    40 https://doi.org/10.1002/1097-0215(20010101)91:1<137::aid-ijc1020>3.0.co;2-r
    41 https://doi.org/10.1002/humu.10260
    42 https://doi.org/10.1002/humu.10262
    43 https://doi.org/10.1002/humu.9014
    44 https://doi.org/10.1002/ijc.10214
    45 https://doi.org/10.1016/j.cell.2007.03.009
    46 https://doi.org/10.1016/s0959-8049(02)00498-7
    47 https://doi.org/10.1073/pnas.0701724104
    48 https://doi.org/10.1093/hmg/ddm026
    49 https://doi.org/10.1126/science.1073834
    50 https://doi.org/10.1158/0008-5472.can-06-1418
    51 https://doi.org/10.1158/0008-5472.can-07-1501
    52 https://doi.org/10.1182/blood-2004-07-2588
    53 schema:datePublished 2009-02
    54 schema:datePublishedReg 2009-02-01
    55 schema:description Recent reports have shown that mutations in the FANCJ/BRIP1 and FANCN/PALB2 Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the PALB2-associated families and tumors. The role of FANCB in breast cancer susceptibility has not been tested to date. Likewise PALB2 mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of FANCB and PALB2 in 95 index cases of BRCA1/2-negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent PALB2 mutations in 725 additional probands. Pathogenic changes were not detected in FANCB. We found a novel PALB2 truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent PALB2 mutations did not reveal any carrier patient. We report the first example of LOH occurring in a PALB2-associated tumor. Our results rule out a major contribution of FANCB to hereditary breast cancer. Our data are consistent with the notion of individually rare PALB2 mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that PALB2 loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a PALB2-breast cancer phenotype.
    56 schema:genre research_article
    57 schema:inLanguage en
    58 schema:isAccessibleForFree false
    59 schema:isPartOf N47cb142ced7c403099318fbdce553797
    60 N4cecd32914ce420185f909c037af2f04
    61 sg:journal.1092777
    62 schema:name Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families
    63 schema:pagination 545-551
    64 schema:productId N237920d66a2f41fa80a92ba1050bed8e
    65 N5548cbad18ff4708855aad0b3946315e
    66 N72d675aada79449797f7b47aba3982be
    67 N8098f8b9ddf9497a92c0ae7ed5d46564
    68 N97ec984b3c684dec89591dc723853275
    69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025945672
    70 https://doi.org/10.1007/s10549-008-9945-0
    71 schema:sdDatePublished 2019-04-11T01:07
    72 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    73 schema:sdPublisher N9c640b38826942a88d7b6033286269fb
    74 schema:url http://link.springer.com/10.1007%2Fs10549-008-9945-0
    75 sgo:license sg:explorer/license/
    76 sgo:sdDataset articles
    77 rdf:type schema:ScholarlyArticle
    78 N05f30ca1ee924e3d9dd818e77fac8f83 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    79 schema:name Breast Neoplasms, Male
    80 rdf:type schema:DefinedTerm
    81 N06a280c03e7e407ca99ecd8a5cf5cd81 rdf:first sg:person.01040410440.39
    82 rdf:rest N35858605f1b74465b1b306e3c6c6d0a5
    83 N152ea65ec50945b6a3a5c0a2a449d73d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    84 schema:name Male
    85 rdf:type schema:DefinedTerm
    86 N20e569ed7336477daf725393ea827670 rdf:first sg:person.01204425567.17
    87 rdf:rest N3e550e5fc8ae426c9c1ffe586b7189ce
    88 N237920d66a2f41fa80a92ba1050bed8e schema:name nlm_unique_id
    89 schema:value 8111104
    90 rdf:type schema:PropertyValue
    91 N27c8d633633b43f59422d8f015e53661 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    92 schema:name Spain
    93 rdf:type schema:DefinedTerm
    94 N298eaa6fa477444c8bff0276c77f1d65 rdf:first sg:person.01202117102.55
    95 rdf:rest Na25b1997a61d4cc0afd5b25f1a59cd41
    96 N35858605f1b74465b1b306e3c6c6d0a5 rdf:first sg:person.0614411275.48
    97 rdf:rest Nebdb425a668049fc902e573b048c582d
    98 N3e550e5fc8ae426c9c1ffe586b7189ce rdf:first sg:person.011272620520.78
    99 rdf:rest Nf6ce12ca16114564ad804ae78d2a8432
    100 N43ba9c728b8b4aa49f5091520671663e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    101 schema:name Genetic Testing
    102 rdf:type schema:DefinedTerm
    103 N43f498b47d3d48e4b384c71ddcdcb1ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    104 schema:name Humans
    105 rdf:type schema:DefinedTerm
    106 N470d91ee7748420590be1791c7599973 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    107 schema:name Female
    108 rdf:type schema:DefinedTerm
    109 N47cb142ced7c403099318fbdce553797 schema:volumeNumber 113
    110 rdf:type schema:PublicationVolume
    111 N4b9e991abd0945c99338a8a5527f7f1d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Aged
    113 rdf:type schema:DefinedTerm
    114 N4cecd32914ce420185f909c037af2f04 schema:issueNumber 3
    115 rdf:type schema:PublicationIssue
    116 N5548cbad18ff4708855aad0b3946315e schema:name readcube_id
    117 schema:value 7b9adef989dbe28c493c9d3d8f4d4b64d2077ea44d163bcf52455aff9fc407e7
    118 rdf:type schema:PropertyValue
    119 N5743d3502e15462592ac31dc76f4e589 rdf:first sg:person.0724776575.98
    120 rdf:rest N9cc635b37b2c49dba43d384bd8f327d5
    121 N5ad1cdbc52894cb4a1c011ccfeed273a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    122 schema:name Genes, BRCA1
    123 rdf:type schema:DefinedTerm
    124 N5da2f3a24e8a47079e5a66fcf425b4ed rdf:first sg:person.0760730104.41
    125 rdf:rest N842140d1c23d4ddeba5a860fc327bbcd
    126 N640e7969a48346558485c25d81de482b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    127 schema:name Neoplastic Syndromes, Hereditary
    128 rdf:type schema:DefinedTerm
    129 N6616b3269da84d46844cf232227ebb54 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Tumor Suppressor Proteins
    131 rdf:type schema:DefinedTerm
    132 N697a741b7ffd451e86e740e430e1fd90 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    133 schema:name Loss of Heterozygosity
    134 rdf:type schema:DefinedTerm
    135 N72d675aada79449797f7b47aba3982be schema:name dimensions_id
    136 schema:value pub.1025945672
    137 rdf:type schema:PropertyValue
    138 N8098f8b9ddf9497a92c0ae7ed5d46564 schema:name doi
    139 schema:value 10.1007/s10549-008-9945-0
    140 rdf:type schema:PropertyValue
    141 N8158087b002849abb4b8140cde0acc16 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name Breast Neoplasms
    143 rdf:type schema:DefinedTerm
    144 N842140d1c23d4ddeba5a860fc327bbcd rdf:first sg:person.01035344421.89
    145 rdf:rest N20e569ed7336477daf725393ea827670
    146 N8d3677009a914b639f43ebe7ff032ce5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Ovarian Neoplasms
    148 rdf:type schema:DefinedTerm
    149 N97ec984b3c684dec89591dc723853275 schema:name pubmed_id
    150 schema:value 18302019
    151 rdf:type schema:PropertyValue
    152 N9b910b433aa249d7a6eeb53984071a0f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Mutation
    154 rdf:type schema:DefinedTerm
    155 N9c640b38826942a88d7b6033286269fb schema:name Springer Nature - SN SciGraph project
    156 rdf:type schema:Organization
    157 N9cc635b37b2c49dba43d384bd8f327d5 rdf:first sg:person.010124473420.85
    158 rdf:rest N5da2f3a24e8a47079e5a66fcf425b4ed
    159 Na25b1997a61d4cc0afd5b25f1a59cd41 rdf:first sg:person.01045066275.38
    160 rdf:rest Nff7fe211133b4a66a9c25b5a0629aec2
    161 Nacda2f783fe345e1bbff07559d0d37c0 rdf:first sg:person.0776425360.92
    162 rdf:rest N5743d3502e15462592ac31dc76f4e589
    163 Nb2f59742505f442481486d0b8b3e7161 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    164 schema:name Fanconi Anemia Complementation Group Proteins
    165 rdf:type schema:DefinedTerm
    166 Nbc679000432b48f3af7e41f62af3b743 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    167 schema:name Genes, BRCA2
    168 rdf:type schema:DefinedTerm
    169 Nc87052c74f4346da92fbff033bdf4cca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Fanconi Anemia Complementation Group N Protein
    171 rdf:type schema:DefinedTerm
    172 Ncc6c723ff2764e85aa26edbd2b1e3cfa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    173 schema:name Pedigree
    174 rdf:type schema:DefinedTerm
    175 Nd1ed4dde64db40899c31ed7f56d184d3 rdf:first sg:person.0662453064.98
    176 rdf:rest N298eaa6fa477444c8bff0276c77f1d65
    177 Nd7bd5ab2ef1749a7976d115ec88f85ea rdf:first sg:person.01333446703.24
    178 rdf:rest rdf:nil
    179 Nda34d42689cd4fa1852c337239b0eaea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    180 schema:name Nuclear Proteins
    181 rdf:type schema:DefinedTerm
    182 Nebdb425a668049fc902e573b048c582d rdf:first sg:person.0662524475.19
    183 rdf:rest Nd1ed4dde64db40899c31ed7f56d184d3
    184 Necd56f615fea4f31a63eba3f5eb03e37 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    185 schema:name Middle Aged
    186 rdf:type schema:DefinedTerm
    187 Nf6ce12ca16114564ad804ae78d2a8432 rdf:first sg:person.01313240102.02
    188 rdf:rest N06a280c03e7e407ca99ecd8a5cf5cd81
    189 Nf92b50ed817749588671a30f680ed10b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Genetic Predisposition to Disease
    191 rdf:type schema:DefinedTerm
    192 Nff7fe211133b4a66a9c25b5a0629aec2 rdf:first sg:person.0765665046.58
    193 rdf:rest Nd7bd5ab2ef1749a7976d115ec88f85ea
    194 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    195 schema:name Medical and Health Sciences
    196 rdf:type schema:DefinedTerm
    197 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
    198 schema:name Oncology and Carcinogenesis
    199 rdf:type schema:DefinedTerm
    200 sg:journal.1092777 schema:issn 0167-6806
    201 1573-7217
    202 schema:name Breast Cancer Research and Treatment
    203 rdf:type schema:Periodical
    204 sg:person.010124473420.85 schema:affiliation https://www.grid.ac/institutes/grid.7719.8
    205 schema:familyName Osorio
    206 schema:givenName Ana
    207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010124473420.85
    208 rdf:type schema:Person
    209 sg:person.01035344421.89 schema:affiliation https://www.grid.ac/institutes/grid.418701.b
    210 schema:familyName LLort
    211 schema:givenName Gemma
    212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035344421.89
    213 rdf:type schema:Person
    214 sg:person.01040410440.39 schema:affiliation https://www.grid.ac/institutes/grid.411068.a
    215 schema:familyName de la Hoya
    216 schema:givenName Miguel
    217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040410440.39
    218 rdf:type schema:Person
    219 sg:person.01045066275.38 schema:affiliation https://www.grid.ac/institutes/grid.144756.5
    220 schema:familyName Robles-Díaz
    221 schema:givenName Luis
    222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045066275.38
    223 rdf:type schema:Person
    224 sg:person.011272620520.78 schema:affiliation https://www.grid.ac/institutes/grid.418701.b
    225 schema:familyName Blanco
    226 schema:givenName Ignacio
    227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011272620520.78
    228 rdf:type schema:Person
    229 sg:person.01202117102.55 schema:affiliation https://www.grid.ac/institutes/grid.411347.4
    230 schema:familyName San Román
    231 schema:givenName Carlos
    232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202117102.55
    233 rdf:type schema:Person
    234 sg:person.01204425567.17 schema:affiliation https://www.grid.ac/institutes/grid.418701.b
    235 schema:familyName Lázaro
    236 schema:givenName Conxi
    237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204425567.17
    238 rdf:type schema:Person
    239 sg:person.01313240102.02 schema:affiliation https://www.grid.ac/institutes/grid.411068.a
    240 schema:familyName Caldés
    241 schema:givenName Trinidad
    242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313240102.02
    243 rdf:type schema:Person
    244 sg:person.01333446703.24 schema:affiliation https://www.grid.ac/institutes/grid.413448.e
    245 schema:familyName Benítez
    246 schema:givenName Javier
    247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333446703.24
    248 rdf:type schema:Person
    249 sg:person.0614411275.48 schema:affiliation https://www.grid.ac/institutes/grid.413396.a
    250 schema:familyName Ramón y Cajal
    251 schema:givenName Teresa
    252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614411275.48
    253 rdf:type schema:Person
    254 sg:person.0662453064.98 schema:affiliation https://www.grid.ac/institutes/grid.411232.7
    255 schema:familyName Tejada
    256 schema:givenName María-Isabel
    257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662453064.98
    258 rdf:type schema:Person
    259 sg:person.0662524475.19 schema:affiliation https://www.grid.ac/institutes/grid.413396.a
    260 schema:familyName Alonso
    261 schema:givenName Carmen
    262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662524475.19
    263 rdf:type schema:Person
    264 sg:person.0724776575.98 schema:affiliation https://www.grid.ac/institutes/grid.7719.8
    265 schema:familyName Fernández
    266 schema:givenName Victoria
    267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724776575.98
    268 rdf:type schema:Person
    269 sg:person.0760730104.41 schema:affiliation https://www.grid.ac/institutes/grid.7719.8
    270 schema:familyName Barroso
    271 schema:givenName Alicia
    272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760730104.41
    273 rdf:type schema:Person
    274 sg:person.0765665046.58 schema:affiliation https://www.grid.ac/institutes/grid.7719.8
    275 schema:familyName Urioste
    276 schema:givenName Miguel
    277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765665046.58
    278 rdf:type schema:Person
    279 sg:person.0776425360.92 schema:affiliation https://www.grid.ac/institutes/grid.413448.e
    280 schema:familyName García
    281 schema:givenName María J.
    282 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776425360.92
    283 rdf:type schema:Person
    284 sg:pub.10.1007/s10549-006-9489-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043758927
    285 https://doi.org/10.1007/s10549-006-9489-0
    286 rdf:type schema:CreativeWork
    287 sg:pub.10.1038/35076590 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046006966
    288 https://doi.org/10.1038/35076590
    289 rdf:type schema:CreativeWork
    290 sg:pub.10.1038/nature05609 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022412135
    291 https://doi.org/10.1038/nature05609
    292 rdf:type schema:CreativeWork
    293 sg:pub.10.1038/ng0693-202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029661254
    294 https://doi.org/10.1038/ng0693-202
    295 rdf:type schema:CreativeWork
    296 sg:pub.10.1038/ng1902 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032659958
    297 https://doi.org/10.1038/ng1902
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1038/ng1942 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005614815
    300 https://doi.org/10.1038/ng1942
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/ng1947 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030963670
    303 https://doi.org/10.1038/ng1947
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1038/ng1959 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022261638
    306 https://doi.org/10.1038/ng1959
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1038/nrg2159 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028849796
    309 https://doi.org/10.1038/nrg2159
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1038/sj.onc.1209878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050628681
    312 https://doi.org/10.1038/sj.onc.1209878
    313 rdf:type schema:CreativeWork
    314 sg:pub.10.1054/bjoc.1999.1089 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049663955
    315 https://doi.org/10.1054/bjoc.1999.1089
    316 rdf:type schema:CreativeWork
    317 sg:pub.10.1186/1471-2407-6-19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011281190
    318 https://doi.org/10.1186/1471-2407-6-19
    319 rdf:type schema:CreativeWork
    320 sg:pub.10.1186/bcr1336 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026862561
    321 https://doi.org/10.1186/bcr1336
    322 rdf:type schema:CreativeWork
    323 https://app.dimensions.ai/details/publication/pub.1076617311 schema:CreativeWork
    324 https://doi.org/10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n schema:sameAs https://app.dimensions.ai/details/publication/pub.1001566097
    325 rdf:type schema:CreativeWork
    326 https://doi.org/10.1002/1097-0215(20010101)91:1<137::aid-ijc1020>3.0.co;2-r schema:sameAs https://app.dimensions.ai/details/publication/pub.1030779640
    327 rdf:type schema:CreativeWork
    328 https://doi.org/10.1002/humu.10260 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048662461
    329 rdf:type schema:CreativeWork
    330 https://doi.org/10.1002/humu.10262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006038446
    331 rdf:type schema:CreativeWork
    332 https://doi.org/10.1002/humu.9014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047294865
    333 rdf:type schema:CreativeWork
    334 https://doi.org/10.1002/ijc.10214 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052369175
    335 rdf:type schema:CreativeWork
    336 https://doi.org/10.1016/j.cell.2007.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021461597
    337 rdf:type schema:CreativeWork
    338 https://doi.org/10.1016/s0959-8049(02)00498-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018965798
    339 rdf:type schema:CreativeWork
    340 https://doi.org/10.1073/pnas.0701724104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005396371
    341 rdf:type schema:CreativeWork
    342 https://doi.org/10.1093/hmg/ddm026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023445606
    343 rdf:type schema:CreativeWork
    344 https://doi.org/10.1126/science.1073834 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010676859
    345 rdf:type schema:CreativeWork
    346 https://doi.org/10.1158/0008-5472.can-06-1418 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012784187
    347 rdf:type schema:CreativeWork
    348 https://doi.org/10.1158/0008-5472.can-07-1501 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045611969
    349 rdf:type schema:CreativeWork
    350 https://doi.org/10.1182/blood-2004-07-2588 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049796316
    351 rdf:type schema:CreativeWork
    352 https://www.grid.ac/institutes/grid.144756.5 schema:alternateName Hospital Universitario 12 De Octubre
    353 schema:name Oncology Department, Doce de Octubre Hospital, 28041, Madrid, Spain
    354 rdf:type schema:Organization
    355 https://www.grid.ac/institutes/grid.411068.a schema:alternateName Hospital Clínico San Carlos
    356 schema:name Laboratory of Molecular Oncology, San Carlos University Hospital, 28040, Madrid, Spain
    357 rdf:type schema:Organization
    358 https://www.grid.ac/institutes/grid.411232.7 schema:alternateName Hospital de Cruces
    359 schema:name Molecular Genetics Laboratory, Cruces Hospital, 48903, Baracaldo, Bilbao, Spain
    360 rdf:type schema:Organization
    361 https://www.grid.ac/institutes/grid.411347.4 schema:alternateName Hospital Universitario Ramón y Cajal
    362 schema:name Genetics Department, Ramón y Cajal Hospital, 28034, Madrid, Spain
    363 rdf:type schema:Organization
    364 https://www.grid.ac/institutes/grid.413396.a schema:alternateName Hospital de Sant Pau
    365 schema:name Service of Medical Oncology, La Santa Creu i Sant Pau Hospital, 08025, Barcelona, Spain
    366 rdf:type schema:Organization
    367 https://www.grid.ac/institutes/grid.413448.e schema:alternateName Instituto de Salud Carlos III
    368 schema:name Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
    369 Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fernández Almagro 3, 28029, Madrid, Spain
    370 rdf:type schema:Organization
    371 https://www.grid.ac/institutes/grid.418701.b schema:alternateName Institut Català d'Oncologia
    372 schema:name Genetic Counseling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology (ICO), 08907, L’Hospitalet, Barcelona, Spain
    373 Translational Research Laboratory, Catalan Institute of Oncology (ICO), 08907, L’Hospitalet, Barcelona, Spain
    374 rdf:type schema:Organization
    375 https://www.grid.ac/institutes/grid.7719.8 schema:alternateName Spanish National Cancer Research Centre
    376 schema:name Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), C/ Melchor Fernández Almagro 3, 28029, Madrid, Spain
    377 rdf:type schema:Organization
     




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


    ...