Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-01

AUTHORS

Michelle D. Sluiter, Elizabeth J. van Rensburg

ABSTRACT

Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the rapid detection of large genomic rearrangements (LGRs). LGRs in BRCA1 are responsible for between 0 and 27% of all BRCA1 disease-causing mutations identified in numerous populations. Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe amplification. These patients were previously shown to be BRCA1 and BRCA2 small mutation negative. One LGR was detected in BRCA1 in a South African family with Greek ancestry. This is a novel deletion of both exons 23 and 24 (NG_005905.2:g.169527_180579del). This first study of BRCA rearrangements in South Africa reveals that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations. In addition, we have reviewed all 98 previously characterized BRCA1/2 LGRs and re-named them according to the recommended HGVS nomenclature, using the recently released RefSeqGene records, NG_005905.2 and NG_012772.1 for BRCA1 and BRCA2. A standardized resource is now provided which will assist researchers in determining whether their LGRs are novel. Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future. More... »

PAGES

325-349

References to SciGraph publications

  • 2004-12. Characterization of a novel large deletion and single point mutations in the BRCA1gene in a Greek cohort of families with suspected hereditary breast cancer in BMC CANCER
  • 1999-07. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families in ONCOGENE
  • 2009-12. Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population in FAMILIAL CANCER
  • 1997-11. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients in NATURE GENETICS
  • 2007-12. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic in BMC MEDICAL GENETICS
  • 2010-08. Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes in BREAST CANCER RESEARCH AND TREATMENT
  • 2008-11. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family in BREAST CANCER RESEARCH AND TREATMENT
  • 2004-09. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification in BRITISH JOURNAL OF CANCER
  • 2008-12. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families in BMC CANCER
  • 2007-12. Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families in BREAST CANCER RESEARCH AND TREATMENT
  • 2005-08. Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families in JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
  • 2000-10. In-frame deletions of BRCA1 may define critical functional domains in HUMAN GENETICS
  • 2009-05. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families in BREAST CANCER RESEARCH AND TREATMENT
  • 1995-10. The genetics of breast and ovarian cancer in BRITISH JOURNAL OF CANCER
  • 2009-03. The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal in BREAST CANCER RESEARCH AND TREATMENT
  • 2004-09. Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-11. BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families in FAMILIAL CANCER
  • 2002-10. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families in ONCOGENE
  • 2000-01. Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families in BRITISH JOURNAL OF CANCER
  • 1996-06. Mutation analysis in the BRCA2 gene in primary breast cancers in NATURE GENETICS
  • 1995-12. Identification of the breast cancer susceptibility gene BRCA2 in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10549-010-0817-z

    DOI

    http://dx.doi.org/10.1007/s10549-010-0817-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1038821580

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20232141


    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": "Base Sequence", 
            "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": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Rearrangement", 
            "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 Testing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Germ-Line Mutation", 
            "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": "Molecular Sequence Data", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ovarian Neoplasms", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Deletion", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "South Africa", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Terminology as Topic", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Pretoria", 
              "id": "https://www.grid.ac/institutes/grid.49697.35", 
              "name": [
                "Department of Genetics, University of Pretoria, P.O Box 2034, 0001, Pretoria, South Africa"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sluiter", 
            "givenName": "Michelle D.", 
            "id": "sg:person.0644321746.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644321746.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Pretoria", 
              "id": "https://www.grid.ac/institutes/grid.49697.35", 
              "name": [
                "Department of Genetics, University of Pretoria, P.O Box 2034, 0001, Pretoria, South Africa"
              ], 
              "type": "Organization"
            }, 
            "familyName": "van Rensburg", 
            "givenName": "Elizabeth J.", 
            "id": "sg:person.01065131343.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065131343.00"
            ], 
            "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": "sg:pub.10.1007/s004390000372", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001729161", 
              "https://doi.org/10.1007/s004390000372"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390000372", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001729161", 
              "https://doi.org/10.1007/s004390000372"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002750601"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10689-006-0009-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004005840", 
              "https://doi.org/10.1007/s10689-006-0009-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/1055-9965.epi-07-0198", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004664299"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2350-8-32", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004748510", 
              "https://doi.org/10.1186/1471-2350-8-32"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-007-9499-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005272932", 
              "https://doi.org/10.1007/s10549-007-9499-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-007-9499-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005272932", 
              "https://doi.org/10.1007/s10549-007-9499-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/bjc.1995.417", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005396893", 
              "https://doi.org/10.1038/bjc.1995.417"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/bjc.1995.417", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005396893", 
              "https://doi.org/10.1038/bjc.1995.417"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-008-0088-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006676276", 
              "https://doi.org/10.1007/s10549-008-0088-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-008-0088-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006676276", 
              "https://doi.org/10.1007/s10549-008-0088-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cancergencyto.2005.07.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006741081"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2004.027961", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007559367"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-04-2467", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007660504"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0696-245", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007842785", 
              "https://doi.org/10.1038/ng0696-245"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2007.00773.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008207231"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20342", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008279651"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.mrfmmm.2007.08.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008473119"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.20189", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009387119"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-009-0613-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010122121", 
              "https://doi.org/10.1007/s10549-009-0613-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-009-0613-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010122121", 
              "https://doi.org/10.1007/s10549-009-0613-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.39.11.817", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011085608"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0003-2697(89)90430-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011722705"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gnf056", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013569073"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9148", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014857958"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9291", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014893746"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.tibs.2004.09.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015162467"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cancergencyto.2005.05.014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018721329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2407-8-146", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019462278", 
              "https://doi.org/10.1186/1471-2407-8-146"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10689-009-9279-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019763954", 
              "https://doi.org/10.1007/s10689-009-9279-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10689-009-9279-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019763954", 
              "https://doi.org/10.1007/s10689-009-9279-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/6.9.1513", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020495523"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9493", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021082169"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1525-1578(10)60020-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021860036"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.1110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023449627"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-008-9978-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023614050", 
              "https://doi.org/10.1007/s10549-008-9978-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-008-9978-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023614050", 
              "https://doi.org/10.1007/s10549-008-9978-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/gcc.1120", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024162963"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20599", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025652740"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0165-4608(01)00437-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025970464"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20340", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026257636"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2005.040212", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026578433"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.bjc.6602121", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026681560", 
              "https://doi.org/10.1038/sj.bjc.6602121"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.bjc.6602121", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026681560", 
              "https://doi.org/10.1038/sj.bjc.6602121"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejca.2006.09.021", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027798663"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1373/clinchem.2006.070110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028014845"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10549-007-9839-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028181778", 
              "https://doi.org/10.1007/s10549-007-9839-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2407-4-61", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028870316", 
              "https://doi.org/10.1186/1471-2407-4-61"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddg120", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029078828"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20723", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031879868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.6.11.1029", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032748231"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1098-2264(2000)9999:9999<::aid-gcc1008>3.0.co;2-f", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033171710"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1202754", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034526853", 
              "https://doi.org/10.1038/sj.onc.1202754"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1202754", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034526853", 
              "https://doi.org/10.1038/sj.onc.1202754"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/10.7.705", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035754754"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/378789a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036404842", 
              "https://doi.org/10.1038/378789a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00432-005-0678-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036984667", 
              "https://doi.org/10.1007/s00432-005-0678-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00432-005-0678-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036984667", 
              "https://doi.org/10.1007/s00432-005-0678-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00432-005-0678-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036984667", 
              "https://doi.org/10.1007/s00432-005-0678-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00432-005-0678-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036984667", 
              "https://doi.org/10.1007/s00432-005-0678-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1197-341", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037669803", 
              "https://doi.org/10.1038/ng1197-341"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201223", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038612411", 
              "https://doi.org/10.1038/sj.ejhg.5201223"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201223", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038612411", 
              "https://doi.org/10.1038/sj.ejhg.5201223"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2005.032789", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040964396"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.7545954", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041365117"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20169", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041618118"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1080/02841860802004974", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041688246"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cca.2009.02.020", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042942505"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1098-2264(200007)28:3<300::aid-gcc8>3.0.co;2-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043189734"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1200/jco.2006.06.9443", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043870539"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/1055-9965.epi-07-0403", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044704721"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1001/jama.295.12.1379", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045252160"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.40.9.e107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046136136"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9154", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046295403"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ijc.20186", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048592916"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.39.7.e36", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049316296"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.9366", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050141626"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1205685", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050652880", 
              "https://doi.org/10.1038/sj.onc.1205685"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1205685", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050652880", 
              "https://doi.org/10.1038/sj.onc.1205685"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cancergencyto.2005.12.016", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051325469"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-08-0599", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052236868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1054/bjoc.1999.0892", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052330775", 
              "https://doi.org/10.1054/bjoc.1999.0892"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2006.00637.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052789243"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/301749", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609356"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/301880", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609477"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302211", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609795"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302974", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058610520"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/303076", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058610617"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/339434", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058638232"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1089/109065700316471", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059208587"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1089/gte.2006.10.104", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059267243"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1089/gtmb.2008.0155", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059267500"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.38.6.388", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062818140"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.38.6.388", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062818140"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3892/or.19.1.263", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1071530723"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075262312", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1083049140", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1083241015", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1083382590", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2011-01", 
        "datePublishedReg": "2011-01-01", 
        "description": "Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the rapid detection of large genomic rearrangements (LGRs). LGRs in BRCA1 are responsible for between 0 and 27% of all BRCA1 disease-causing mutations identified in numerous populations. Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe amplification. These patients were previously shown to be BRCA1 and BRCA2 small mutation negative. One LGR was detected in BRCA1 in a South African family with Greek ancestry. This is a novel deletion of both exons 23 and 24 (NG_005905.2:g.169527_180579del). This first study of BRCA rearrangements in South Africa reveals that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations. In addition, we have reviewed all 98 previously characterized BRCA1/2 LGRs and re-named them according to the recommended HGVS nomenclature, using the recently released RefSeqGene records, NG_005905.2 and NG_012772.1 for BRCA1 and BRCA2. A standardized resource is now provided which will assist researchers in determining whether their LGRs are novel. Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s10549-010-0817-z", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1092777", 
            "issn": [
              "0167-6806", 
              "1573-7217"
            ], 
            "name": "Breast Cancer Research and Treatment", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "2", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "125"
          }
        ], 
        "name": "Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation", 
        "pagination": "325-349", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "b8ee086557622d4ef5b875f1c8840c32cfe628fe2d6266716706b8ca58e2648c"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "20232141"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "8111104"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s10549-010-0817-z"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1038821580"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s10549-010-0817-z", 
          "https://app.dimensions.ai/details/publication/pub.1038821580"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T10:17", 
        "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/v90/0000000348_0000000348/records_54310_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1007/s10549-010-0817-z"
      }
    ]
     

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

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10549-010-0817-z'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10549-010-0817-z'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10549-010-0817-z'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10549-010-0817-z'


     

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

    419 TRIPLES      21 PREDICATES      132 URIs      38 LITERALS      26 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s10549-010-0817-z schema:about N06faa8c09ae447e58d4a962b268fd8a8
    2 N2a7015ef16d04b05838a66ea08effaa5
    3 N471602ed43f44d7f824f2e20d0c38a36
    4 N504a7e4cc22d41428a2d88bf2a49203b
    5 N66deeac076554f28a5f7961338dd3b47
    6 N825897070f3e469ab6551fc5f470e6bc
    7 N87de4ff6266a45c6953ab9f48cc30e4b
    8 N8b8a88680a1e44be8a99b406518beaca
    9 Na0a7b1a4936e41bf80612b5133d2327a
    10 Nba4018d94835483f8cff96557e6d5334
    11 Nc471b43566e4499f834470e35eec270a
    12 Nd730fa1d0ffc426280f72f1a7fa78eb7
    13 Ne2d5647267524bf0baf355b7070d0a04
    14 Ne4ea9c63fc584cd493e92bc72322c35b
    15 Ne8e1cc609ba141bfa23870d50a71726f
    16 Nee411997081549aebb93243fb9c1d589
    17 Nf063a8b52abe46a48a6b8fbcd3ae1dce
    18 anzsrc-for:11
    19 anzsrc-for:1112
    20 schema:author N783250d57b2043678ce83d5bdd8d0889
    21 schema:citation sg:pub.10.1007/s00432-005-0678-8
    22 sg:pub.10.1007/s004390000372
    23 sg:pub.10.1007/s10549-007-9499-6
    24 sg:pub.10.1007/s10549-007-9839-6
    25 sg:pub.10.1007/s10549-008-0088-0
    26 sg:pub.10.1007/s10549-008-9978-4
    27 sg:pub.10.1007/s10549-009-0613-9
    28 sg:pub.10.1007/s10689-006-0009-5
    29 sg:pub.10.1007/s10689-009-9279-z
    30 sg:pub.10.1038/378789a0
    31 sg:pub.10.1038/bjc.1995.417
    32 sg:pub.10.1038/ng0696-245
    33 sg:pub.10.1038/ng1197-341
    34 sg:pub.10.1038/sj.bjc.6602121
    35 sg:pub.10.1038/sj.ejhg.5201223
    36 sg:pub.10.1038/sj.onc.1202754
    37 sg:pub.10.1038/sj.onc.1205685
    38 sg:pub.10.1054/bjoc.1999.0892
    39 sg:pub.10.1186/1471-2350-8-32
    40 sg:pub.10.1186/1471-2407-4-61
    41 sg:pub.10.1186/1471-2407-8-146
    42 https://app.dimensions.ai/details/publication/pub.1075262312
    43 https://app.dimensions.ai/details/publication/pub.1083049140
    44 https://app.dimensions.ai/details/publication/pub.1083241015
    45 https://app.dimensions.ai/details/publication/pub.1083382590
    46 https://doi.org/10.1001/jama.295.12.1379
    47 https://doi.org/10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n
    48 https://doi.org/10.1002/1098-2264(2000)9999:9999<::aid-gcc1008>3.0.co;2-f
    49 https://doi.org/10.1002/1098-2264(200007)28:3<300::aid-gcc8>3.0.co;2-1
    50 https://doi.org/10.1002/gcc.1110
    51 https://doi.org/10.1002/gcc.1120
    52 https://doi.org/10.1002/gcc.20189
    53 https://doi.org/10.1002/gcc.20342
    54 https://doi.org/10.1002/humu.10108
    55 https://doi.org/10.1002/humu.20169
    56 https://doi.org/10.1002/humu.20340
    57 https://doi.org/10.1002/humu.20599
    58 https://doi.org/10.1002/humu.20723
    59 https://doi.org/10.1002/humu.9148
    60 https://doi.org/10.1002/humu.9154
    61 https://doi.org/10.1002/humu.9291
    62 https://doi.org/10.1002/humu.9366
    63 https://doi.org/10.1002/humu.9493
    64 https://doi.org/10.1002/ijc.20186
    65 https://doi.org/10.1016/0003-2697(89)90430-2
    66 https://doi.org/10.1016/j.cancergencyto.2005.05.014
    67 https://doi.org/10.1016/j.cancergencyto.2005.07.005
    68 https://doi.org/10.1016/j.cancergencyto.2005.12.016
    69 https://doi.org/10.1016/j.cca.2009.02.020
    70 https://doi.org/10.1016/j.ejca.2006.09.021
    71 https://doi.org/10.1016/j.mrfmmm.2007.08.002
    72 https://doi.org/10.1016/j.tibs.2004.09.010
    73 https://doi.org/10.1016/s0165-4608(01)00437-x
    74 https://doi.org/10.1016/s1525-1578(10)60020-7
    75 https://doi.org/10.1080/02841860802004974
    76 https://doi.org/10.1086/301749
    77 https://doi.org/10.1086/301880
    78 https://doi.org/10.1086/302211
    79 https://doi.org/10.1086/302974
    80 https://doi.org/10.1086/303076
    81 https://doi.org/10.1086/339434
    82 https://doi.org/10.1089/109065700316471
    83 https://doi.org/10.1089/gte.2006.10.104
    84 https://doi.org/10.1089/gtmb.2008.0155
    85 https://doi.org/10.1093/hmg/10.7.705
    86 https://doi.org/10.1093/hmg/6.9.1513
    87 https://doi.org/10.1093/hmg/ddg120
    88 https://doi.org/10.1093/nar/gnf056
    89 https://doi.org/10.1101/gr.6.11.1029
    90 https://doi.org/10.1111/j.1399-0004.2006.00637.x
    91 https://doi.org/10.1111/j.1399-0004.2007.00773.x
    92 https://doi.org/10.1126/science.7545954
    93 https://doi.org/10.1136/jmg.2004.027961
    94 https://doi.org/10.1136/jmg.2005.032789
    95 https://doi.org/10.1136/jmg.2005.040212
    96 https://doi.org/10.1136/jmg.38.6.388
    97 https://doi.org/10.1136/jmg.39.11.817
    98 https://doi.org/10.1136/jmg.39.7.e36
    99 https://doi.org/10.1136/jmg.40.9.e107
    100 https://doi.org/10.1158/0008-5472.can-04-2467
    101 https://doi.org/10.1158/0008-5472.can-08-0599
    102 https://doi.org/10.1158/1055-9965.epi-07-0198
    103 https://doi.org/10.1158/1055-9965.epi-07-0403
    104 https://doi.org/10.1200/jco.2006.06.9443
    105 https://doi.org/10.1373/clinchem.2006.070110
    106 https://doi.org/10.3892/or.19.1.263
    107 schema:datePublished 2011-01
    108 schema:datePublishedReg 2011-01-01
    109 schema:description Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the rapid detection of large genomic rearrangements (LGRs). LGRs in BRCA1 are responsible for between 0 and 27% of all BRCA1 disease-causing mutations identified in numerous populations. Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe amplification. These patients were previously shown to be BRCA1 and BRCA2 small mutation negative. One LGR was detected in BRCA1 in a South African family with Greek ancestry. This is a novel deletion of both exons 23 and 24 (NG_005905.2:g.169527_180579del). This first study of BRCA rearrangements in South Africa reveals that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations. In addition, we have reviewed all 98 previously characterized BRCA1/2 LGRs and re-named them according to the recommended HGVS nomenclature, using the recently released RefSeqGene records, NG_005905.2 and NG_012772.1 for BRCA1 and BRCA2. A standardized resource is now provided which will assist researchers in determining whether their LGRs are novel. Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future.
    110 schema:genre research_article
    111 schema:inLanguage en
    112 schema:isAccessibleForFree false
    113 schema:isPartOf N6cfd207259e44cbc8b36f0f0e5bca633
    114 N94194c5a039c4678b3079e436c43b88f
    115 sg:journal.1092777
    116 schema:name Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
    117 schema:pagination 325-349
    118 schema:productId N127c19b686a24b06a84eefe267a3e38a
    119 N1fdf397b1a6447f285f8e72ec80ffe7d
    120 N7a4f509b342a4dc7a215100685fc8594
    121 N7c466076079646a0929296e84f9d34fc
    122 Nc0d0109b0d9f4ad88347677c9bb5a662
    123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038821580
    124 https://doi.org/10.1007/s10549-010-0817-z
    125 schema:sdDatePublished 2019-04-11T10:17
    126 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    127 schema:sdPublisher N02ed4a1831be475fb90863c0d7ccd2d6
    128 schema:url http://link.springer.com/10.1007/s10549-010-0817-z
    129 sgo:license sg:explorer/license/
    130 sgo:sdDataset articles
    131 rdf:type schema:ScholarlyArticle
    132 N02ed4a1831be475fb90863c0d7ccd2d6 schema:name Springer Nature - SN SciGraph project
    133 rdf:type schema:Organization
    134 N06faa8c09ae447e58d4a962b268fd8a8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    135 schema:name Genes, BRCA2
    136 rdf:type schema:DefinedTerm
    137 N127c19b686a24b06a84eefe267a3e38a schema:name dimensions_id
    138 schema:value pub.1038821580
    139 rdf:type schema:PropertyValue
    140 N17a04753814c405a966f2334d486757f rdf:first sg:person.01065131343.00
    141 rdf:rest rdf:nil
    142 N1fdf397b1a6447f285f8e72ec80ffe7d schema:name pubmed_id
    143 schema:value 20232141
    144 rdf:type schema:PropertyValue
    145 N2a7015ef16d04b05838a66ea08effaa5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    146 schema:name Humans
    147 rdf:type schema:DefinedTerm
    148 N471602ed43f44d7f824f2e20d0c38a36 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    149 schema:name Male
    150 rdf:type schema:DefinedTerm
    151 N504a7e4cc22d41428a2d88bf2a49203b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    152 schema:name Base Sequence
    153 rdf:type schema:DefinedTerm
    154 N66deeac076554f28a5f7961338dd3b47 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    155 schema:name Terminology as Topic
    156 rdf:type schema:DefinedTerm
    157 N6cfd207259e44cbc8b36f0f0e5bca633 schema:issueNumber 2
    158 rdf:type schema:PublicationIssue
    159 N783250d57b2043678ce83d5bdd8d0889 rdf:first sg:person.0644321746.18
    160 rdf:rest N17a04753814c405a966f2334d486757f
    161 N7a4f509b342a4dc7a215100685fc8594 schema:name nlm_unique_id
    162 schema:value 8111104
    163 rdf:type schema:PropertyValue
    164 N7c466076079646a0929296e84f9d34fc schema:name readcube_id
    165 schema:value b8ee086557622d4ef5b875f1c8840c32cfe628fe2d6266716706b8ca58e2648c
    166 rdf:type schema:PropertyValue
    167 N825897070f3e469ab6551fc5f470e6bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    168 schema:name Female
    169 rdf:type schema:DefinedTerm
    170 N87de4ff6266a45c6953ab9f48cc30e4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name Molecular Sequence Data
    172 rdf:type schema:DefinedTerm
    173 N8b8a88680a1e44be8a99b406518beaca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Germ-Line Mutation
    175 rdf:type schema:DefinedTerm
    176 N94194c5a039c4678b3079e436c43b88f schema:volumeNumber 125
    177 rdf:type schema:PublicationVolume
    178 Na0a7b1a4936e41bf80612b5133d2327a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    179 schema:name Ovarian Neoplasms
    180 rdf:type schema:DefinedTerm
    181 Nba4018d94835483f8cff96557e6d5334 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    182 schema:name Gene Rearrangement
    183 rdf:type schema:DefinedTerm
    184 Nc0d0109b0d9f4ad88347677c9bb5a662 schema:name doi
    185 schema:value 10.1007/s10549-010-0817-z
    186 rdf:type schema:PropertyValue
    187 Nc471b43566e4499f834470e35eec270a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    188 schema:name Breast Neoplasms
    189 rdf:type schema:DefinedTerm
    190 Nd730fa1d0ffc426280f72f1a7fa78eb7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    191 schema:name Breast Neoplasms, Male
    192 rdf:type schema:DefinedTerm
    193 Ne2d5647267524bf0baf355b7070d0a04 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    194 schema:name Genes, BRCA1
    195 rdf:type schema:DefinedTerm
    196 Ne4ea9c63fc584cd493e92bc72322c35b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    197 schema:name South Africa
    198 rdf:type schema:DefinedTerm
    199 Ne8e1cc609ba141bfa23870d50a71726f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    200 schema:name Mutation
    201 rdf:type schema:DefinedTerm
    202 Nee411997081549aebb93243fb9c1d589 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Genetic Testing
    204 rdf:type schema:DefinedTerm
    205 Nf063a8b52abe46a48a6b8fbcd3ae1dce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    206 schema:name Sequence Deletion
    207 rdf:type schema:DefinedTerm
    208 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    209 schema:name Medical and Health Sciences
    210 rdf:type schema:DefinedTerm
    211 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
    212 schema:name Oncology and Carcinogenesis
    213 rdf:type schema:DefinedTerm
    214 sg:journal.1092777 schema:issn 0167-6806
    215 1573-7217
    216 schema:name Breast Cancer Research and Treatment
    217 rdf:type schema:Periodical
    218 sg:person.01065131343.00 schema:affiliation https://www.grid.ac/institutes/grid.49697.35
    219 schema:familyName van Rensburg
    220 schema:givenName Elizabeth J.
    221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065131343.00
    222 rdf:type schema:Person
    223 sg:person.0644321746.18 schema:affiliation https://www.grid.ac/institutes/grid.49697.35
    224 schema:familyName Sluiter
    225 schema:givenName Michelle D.
    226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644321746.18
    227 rdf:type schema:Person
    228 sg:pub.10.1007/s00432-005-0678-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036984667
    229 https://doi.org/10.1007/s00432-005-0678-8
    230 rdf:type schema:CreativeWork
    231 sg:pub.10.1007/s004390000372 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001729161
    232 https://doi.org/10.1007/s004390000372
    233 rdf:type schema:CreativeWork
    234 sg:pub.10.1007/s10549-007-9499-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005272932
    235 https://doi.org/10.1007/s10549-007-9499-6
    236 rdf:type schema:CreativeWork
    237 sg:pub.10.1007/s10549-007-9839-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028181778
    238 https://doi.org/10.1007/s10549-007-9839-6
    239 rdf:type schema:CreativeWork
    240 sg:pub.10.1007/s10549-008-0088-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006676276
    241 https://doi.org/10.1007/s10549-008-0088-0
    242 rdf:type schema:CreativeWork
    243 sg:pub.10.1007/s10549-008-9978-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023614050
    244 https://doi.org/10.1007/s10549-008-9978-4
    245 rdf:type schema:CreativeWork
    246 sg:pub.10.1007/s10549-009-0613-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010122121
    247 https://doi.org/10.1007/s10549-009-0613-9
    248 rdf:type schema:CreativeWork
    249 sg:pub.10.1007/s10689-006-0009-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004005840
    250 https://doi.org/10.1007/s10689-006-0009-5
    251 rdf:type schema:CreativeWork
    252 sg:pub.10.1007/s10689-009-9279-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1019763954
    253 https://doi.org/10.1007/s10689-009-9279-z
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1038/378789a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036404842
    256 https://doi.org/10.1038/378789a0
    257 rdf:type schema:CreativeWork
    258 sg:pub.10.1038/bjc.1995.417 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005396893
    259 https://doi.org/10.1038/bjc.1995.417
    260 rdf:type schema:CreativeWork
    261 sg:pub.10.1038/ng0696-245 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007842785
    262 https://doi.org/10.1038/ng0696-245
    263 rdf:type schema:CreativeWork
    264 sg:pub.10.1038/ng1197-341 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037669803
    265 https://doi.org/10.1038/ng1197-341
    266 rdf:type schema:CreativeWork
    267 sg:pub.10.1038/sj.bjc.6602121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026681560
    268 https://doi.org/10.1038/sj.bjc.6602121
    269 rdf:type schema:CreativeWork
    270 sg:pub.10.1038/sj.ejhg.5201223 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038612411
    271 https://doi.org/10.1038/sj.ejhg.5201223
    272 rdf:type schema:CreativeWork
    273 sg:pub.10.1038/sj.onc.1202754 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034526853
    274 https://doi.org/10.1038/sj.onc.1202754
    275 rdf:type schema:CreativeWork
    276 sg:pub.10.1038/sj.onc.1205685 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050652880
    277 https://doi.org/10.1038/sj.onc.1205685
    278 rdf:type schema:CreativeWork
    279 sg:pub.10.1054/bjoc.1999.0892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052330775
    280 https://doi.org/10.1054/bjoc.1999.0892
    281 rdf:type schema:CreativeWork
    282 sg:pub.10.1186/1471-2350-8-32 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004748510
    283 https://doi.org/10.1186/1471-2350-8-32
    284 rdf:type schema:CreativeWork
    285 sg:pub.10.1186/1471-2407-4-61 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028870316
    286 https://doi.org/10.1186/1471-2407-4-61
    287 rdf:type schema:CreativeWork
    288 sg:pub.10.1186/1471-2407-8-146 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019462278
    289 https://doi.org/10.1186/1471-2407-8-146
    290 rdf:type schema:CreativeWork
    291 https://app.dimensions.ai/details/publication/pub.1075262312 schema:CreativeWork
    292 https://app.dimensions.ai/details/publication/pub.1083049140 schema:CreativeWork
    293 https://app.dimensions.ai/details/publication/pub.1083241015 schema:CreativeWork
    294 https://app.dimensions.ai/details/publication/pub.1083382590 schema:CreativeWork
    295 https://doi.org/10.1001/jama.295.12.1379 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045252160
    296 rdf:type schema:CreativeWork
    297 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
    298 rdf:type schema:CreativeWork
    299 https://doi.org/10.1002/1098-2264(2000)9999:9999<::aid-gcc1008>3.0.co;2-f schema:sameAs https://app.dimensions.ai/details/publication/pub.1033171710
    300 rdf:type schema:CreativeWork
    301 https://doi.org/10.1002/1098-2264(200007)28:3<300::aid-gcc8>3.0.co;2-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043189734
    302 rdf:type schema:CreativeWork
    303 https://doi.org/10.1002/gcc.1110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023449627
    304 rdf:type schema:CreativeWork
    305 https://doi.org/10.1002/gcc.1120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024162963
    306 rdf:type schema:CreativeWork
    307 https://doi.org/10.1002/gcc.20189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009387119
    308 rdf:type schema:CreativeWork
    309 https://doi.org/10.1002/gcc.20342 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008279651
    310 rdf:type schema:CreativeWork
    311 https://doi.org/10.1002/humu.10108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002750601
    312 rdf:type schema:CreativeWork
    313 https://doi.org/10.1002/humu.20169 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041618118
    314 rdf:type schema:CreativeWork
    315 https://doi.org/10.1002/humu.20340 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026257636
    316 rdf:type schema:CreativeWork
    317 https://doi.org/10.1002/humu.20599 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025652740
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1002/humu.20723 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031879868
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1002/humu.9148 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014857958
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1002/humu.9154 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046295403
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1002/humu.9291 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014893746
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1002/humu.9366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050141626
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1002/humu.9493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021082169
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1002/ijc.20186 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048592916
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1016/0003-2697(89)90430-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011722705
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1016/j.cancergencyto.2005.05.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018721329
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1016/j.cancergencyto.2005.07.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006741081
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1016/j.cancergencyto.2005.12.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051325469
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1016/j.cca.2009.02.020 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042942505
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1016/j.ejca.2006.09.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027798663
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1016/j.mrfmmm.2007.08.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008473119
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1016/j.tibs.2004.09.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015162467
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1016/s0165-4608(01)00437-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025970464
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1016/s1525-1578(10)60020-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021860036
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1080/02841860802004974 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041688246
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1086/301749 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609356
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1086/301880 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609477
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1086/302211 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609795
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1086/302974 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610520
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1086/303076 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610617
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1086/339434 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058638232
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1089/109065700316471 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059208587
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1089/gte.2006.10.104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059267243
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1089/gtmb.2008.0155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059267500
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1093/hmg/10.7.705 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035754754
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1093/hmg/6.9.1513 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020495523
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1093/hmg/ddg120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029078828
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1093/nar/gnf056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013569073
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1101/gr.6.11.1029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032748231
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1111/j.1399-0004.2006.00637.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1052789243
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1111/j.1399-0004.2007.00773.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1008207231
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1126/science.7545954 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041365117
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1136/jmg.2004.027961 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007559367
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1136/jmg.2005.032789 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040964396
    392 rdf:type schema:CreativeWork
    393 https://doi.org/10.1136/jmg.2005.040212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026578433
    394 rdf:type schema:CreativeWork
    395 https://doi.org/10.1136/jmg.38.6.388 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062818140
    396 rdf:type schema:CreativeWork
    397 https://doi.org/10.1136/jmg.39.11.817 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011085608
    398 rdf:type schema:CreativeWork
    399 https://doi.org/10.1136/jmg.39.7.e36 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049316296
    400 rdf:type schema:CreativeWork
    401 https://doi.org/10.1136/jmg.40.9.e107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046136136
    402 rdf:type schema:CreativeWork
    403 https://doi.org/10.1158/0008-5472.can-04-2467 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007660504
    404 rdf:type schema:CreativeWork
    405 https://doi.org/10.1158/0008-5472.can-08-0599 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052236868
    406 rdf:type schema:CreativeWork
    407 https://doi.org/10.1158/1055-9965.epi-07-0198 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004664299
    408 rdf:type schema:CreativeWork
    409 https://doi.org/10.1158/1055-9965.epi-07-0403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044704721
    410 rdf:type schema:CreativeWork
    411 https://doi.org/10.1200/jco.2006.06.9443 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043870539
    412 rdf:type schema:CreativeWork
    413 https://doi.org/10.1373/clinchem.2006.070110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028014845
    414 rdf:type schema:CreativeWork
    415 https://doi.org/10.3892/or.19.1.263 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071530723
    416 rdf:type schema:CreativeWork
    417 https://www.grid.ac/institutes/grid.49697.35 schema:alternateName University of Pretoria
    418 schema:name Department of Genetics, University of Pretoria, P.O Box 2034, 0001, Pretoria, South Africa
    419 rdf:type schema:Organization
     




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


    ...