Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-12

AUTHORS

Miguel A. M. Moreira, Irina G. Bobrovnitchaia, Maria Angélica F. D. Lima, Anna Cláudia E. Santos, Jesus P. Ramos, Kelly R. L. Souza, Ana Peixoto, Manuel R. Teixeira, Fernando R. Vargas

ABSTRACT

We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region. More... »

PAGES

657-660

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10689-012-9551-5

DOI

http://dx.doi.org/10.1007/s10689-012-9551-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044961215

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22829013


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": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "BRCA1 Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "BRCA2 Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Brazil", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Breast Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Founder Effect", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gastrointestinal Neoplasms", 
        "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": "Germ-Line Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heterozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "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": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymerase Chain Reaction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prognosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Tongue Neoplasms", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Instituto Nacional do C\u00e2ncer", 
          "id": "https://www.grid.ac/institutes/grid.419166.d", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moreira", 
        "givenName": "Miguel A. M.", 
        "id": "sg:person.014142632472.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014142632472.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instituto Nacional do C\u00e2ncer", 
          "id": "https://www.grid.ac/institutes/grid.419166.d", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bobrovnitchaia", 
        "givenName": "Irina G.", 
        "id": "sg:person.01146513020.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146513020.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of the State of Rio de Janeiro", 
          "id": "https://www.grid.ac/institutes/grid.467095.9", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil", 
            "Departamento de Gen\u00e9tica e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lima", 
        "givenName": "Maria Ang\u00e9lica F. D.", 
        "id": "sg:person.01214626220.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214626220.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Rio de Janeiro", 
          "id": "https://www.grid.ac/institutes/grid.8536.8", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil", 
            "Departamento de Gen\u00e9tica e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil", 
            "Departamento de Gen\u00e9tica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Santos", 
        "givenName": "Anna Cl\u00e1udia E.", 
        "id": "sg:person.01024457377.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024457377.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oswaldo Cruz Foundation", 
          "id": "https://www.grid.ac/institutes/grid.418068.3", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil", 
            "Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ramos", 
        "givenName": "Jesus P.", 
        "id": "sg:person.01134527303.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134527303.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instituto Nacional do C\u00e2ncer", 
          "id": "https://www.grid.ac/institutes/grid.419166.d", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Souza", 
        "givenName": "Kelly R. L.", 
        "id": "sg:person.0605450520.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605450520.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "IPO Porto", 
          "id": "https://www.grid.ac/institutes/grid.435544.7", 
          "name": [
            "Servi\u00e7o de Gen\u00e9tica, Instituto Portugu\u00eas de Oncologia do Porto, Porto, Portugal"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Peixoto", 
        "givenName": "Ana", 
        "id": "sg:person.01154437632.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154437632.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "IPO Porto", 
          "id": "https://www.grid.ac/institutes/grid.435544.7", 
          "name": [
            "Servi\u00e7o de Gen\u00e9tica, Instituto Portugu\u00eas de Oncologia do Porto, Porto, Portugal"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Teixeira", 
        "givenName": "Manuel R.", 
        "id": "sg:person.0765377607.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765377607.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Rio de Janeiro", 
          "id": "https://www.grid.ac/institutes/grid.8536.8", 
          "name": [
            "Genetics Program, Instituto Nacional de C\u00e2ncer, Rio de Janeiro, Brazil", 
            "Departamento de Gen\u00e9tica e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil", 
            "Departamento de Gen\u00e9tica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vargas", 
        "givenName": "Fernando R.", 
        "id": "sg:person.0641076405.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641076405.68"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1086/301670", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007199629"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10549-010-1036-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018363921", 
          "https://doi.org/10.1007/s10549-010-1036-3"
        ], 
        "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/10.1093/annonc/mdm234", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035691141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10549-008-0214-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038590711", 
          "https://doi.org/10.1007/s10549-008-0214-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10549-008-0214-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038590711", 
          "https://doi.org/10.1007/s10549-008-0214-z"
        ], 
        "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/10.1093/annonc/mdq663", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044192986"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9366", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050141626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1200/jco.2002.05.121", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064202989"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2012-12", 
    "datePublishedReg": "2012-12-01", 
    "description": "We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10689-012-9551-5", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1021923", 
        "issn": [
          "1389-9600", 
          "1573-7292"
        ], 
        "name": "Familial Cancer", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "11"
      }
    ], 
    "name": "Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype", 
    "pagination": "657-660", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "d62a6747b874035481520086bab6d18515d381bd811b5a66056450bbe6819ad2"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "22829013"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100898211"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10689-012-9551-5"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1044961215"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10689-012-9551-5", 
      "https://app.dimensions.ai/details/publication/pub.1044961215"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T14:04", 
    "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_8660_00000491.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s10689-012-9551-5"
  }
]
 

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/s10689-012-9551-5'

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/s10689-012-9551-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10689-012-9551-5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10689-012-9551-5'


 

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

267 TRIPLES      21 PREDICATES      62 URIs      45 LITERALS      33 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10689-012-9551-5 schema:about N1e89232bbe0041fa930d2b3bf5cce4d2
2 N43607a1b6a9c4ba88f20250b71784d17
3 N605a2ff1fa96425187e6577661daf0e5
4 N62527d5081cb46ca92dc3b4d336f966d
5 N689fa1fc38ef4340bb8b4e345183d614
6 N72e78d5256444b1091880e3d34e152d5
7 N754e3e6e65e3428e84da8d761558b741
8 N7b9eaf37aef649258a5617d3eedd7637
9 N899a0f276662410383bd16700be14f4b
10 N9837ee50f7604680a5edfcc324d10089
11 Nb11c14b5d8f347b9a79bcb2f518555fd
12 Nb149941e458c4a89b4092de0d727dec8
13 Nb22373cad7574c7ebed9d3ad3bdc4214
14 Nb5eb2907469b48debcfa7049615ce37d
15 Nbc4ea8068490476eb0a790818029213f
16 Nbe61f0f8d463498a8d0d9c20ac0da91b
17 Nbe8e2b44132f4d0a9f36d7298b8a1496
18 Nc3cc1ca70383475caccb15dd818549ba
19 Nc80ce644ff0c4b54a130da0eb71b8dac
20 Nd286763d26d14df28b3a0dd3736e7f44
21 Ne5577e0d0668424c9d1c7b2e0428d09c
22 Neaf75b238309401a8fd3497b1adaefab
23 Nfce9a4ac64a64338a0437ea316fb245c
24 Nfcee04badd7d4aefaabb7eb08ce2750c
25 anzsrc-for:11
26 anzsrc-for:1112
27 schema:author N7f15aa77fdce4886bef6a6d89dc94f87
28 schema:citation sg:pub.10.1007/s10549-008-0214-z
29 sg:pub.10.1007/s10549-008-9978-4
30 sg:pub.10.1007/s10549-010-1036-3
31 https://doi.org/10.1002/humu.9366
32 https://doi.org/10.1086/301670
33 https://doi.org/10.1093/annonc/mdm234
34 https://doi.org/10.1093/annonc/mdq663
35 https://doi.org/10.1200/jco.2002.05.121
36 https://doi.org/10.1200/jco.2006.06.9443
37 schema:datePublished 2012-12
38 schema:datePublishedReg 2012-12-01
39 schema:description We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.
40 schema:genre research_article
41 schema:inLanguage en
42 schema:isAccessibleForFree false
43 schema:isPartOf N51c75376beb542e48834bae33e43372b
44 N8b325b6540e7429a809a823864959042
45 sg:journal.1021923
46 schema:name Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype
47 schema:pagination 657-660
48 schema:productId N3242df028a724fe0aa976de7ad2aee8f
49 N6c16d7f228ef4c1a981c577e125352ba
50 N733365e113234aa99e7e6b36abae0acb
51 N747d9cf5232b445a8d0516b452134fcf
52 N90e5655e688a40bea7b6d99bf074ec04
53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044961215
54 https://doi.org/10.1007/s10689-012-9551-5
55 schema:sdDatePublished 2019-04-10T14:04
56 schema:sdLicense https://scigraph.springernature.com/explorer/license/
57 schema:sdPublisher Nac1cb38199614921bcb7467f047e84d8
58 schema:url http://link.springer.com/10.1007/s10689-012-9551-5
59 sgo:license sg:explorer/license/
60 sgo:sdDataset articles
61 rdf:type schema:ScholarlyArticle
62 N1e89232bbe0041fa930d2b3bf5cce4d2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
63 schema:name DNA
64 rdf:type schema:DefinedTerm
65 N3242df028a724fe0aa976de7ad2aee8f schema:name nlm_unique_id
66 schema:value 100898211
67 rdf:type schema:PropertyValue
68 N43607a1b6a9c4ba88f20250b71784d17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Aged
70 rdf:type schema:DefinedTerm
71 N4713e5a3d45f4eae9ef23d6251b6d097 rdf:first sg:person.01154437632.40
72 rdf:rest Nc6042e5ed1e049808e6f7c94f4eee2d3
73 N51c75376beb542e48834bae33e43372b schema:volumeNumber 11
74 rdf:type schema:PublicationVolume
75 N605a2ff1fa96425187e6577661daf0e5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Pedigree
77 rdf:type schema:DefinedTerm
78 N62527d5081cb46ca92dc3b4d336f966d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Middle Aged
80 rdf:type schema:DefinedTerm
81 N689fa1fc38ef4340bb8b4e345183d614 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Ovarian Neoplasms
83 rdf:type schema:DefinedTerm
84 N6c16d7f228ef4c1a981c577e125352ba schema:name doi
85 schema:value 10.1007/s10689-012-9551-5
86 rdf:type schema:PropertyValue
87 N72e78d5256444b1091880e3d34e152d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Adult
89 rdf:type schema:DefinedTerm
90 N733365e113234aa99e7e6b36abae0acb schema:name dimensions_id
91 schema:value pub.1044961215
92 rdf:type schema:PropertyValue
93 N747d9cf5232b445a8d0516b452134fcf schema:name pubmed_id
94 schema:value 22829013
95 rdf:type schema:PropertyValue
96 N754e3e6e65e3428e84da8d761558b741 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Molecular Sequence Data
98 rdf:type schema:DefinedTerm
99 N7b9eaf37aef649258a5617d3eedd7637 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Humans
101 rdf:type schema:DefinedTerm
102 N7f15aa77fdce4886bef6a6d89dc94f87 rdf:first sg:person.014142632472.51
103 rdf:rest Nb252f31fb7dd4b1d9f5d5bc913a0edad
104 N899a0f276662410383bd16700be14f4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name BRCA1 Protein
106 rdf:type schema:DefinedTerm
107 N8a0071bd19fa4922aa9f8ecf76b2edd9 rdf:first sg:person.01024457377.85
108 rdf:rest Ndcc2e9fa5d8641928a900d9dcdf9c2ff
109 N8b325b6540e7429a809a823864959042 schema:issueNumber 4
110 rdf:type schema:PublicationIssue
111 N90e5655e688a40bea7b6d99bf074ec04 schema:name readcube_id
112 schema:value d62a6747b874035481520086bab6d18515d381bd811b5a66056450bbe6819ad2
113 rdf:type schema:PropertyValue
114 N9837ee50f7604680a5edfcc324d10089 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Brazil
116 rdf:type schema:DefinedTerm
117 N9cbbdc0c6f4a4bb4aa8d3a430513e3ea rdf:first sg:person.0605450520.04
118 rdf:rest N4713e5a3d45f4eae9ef23d6251b6d097
119 Nac1cb38199614921bcb7467f047e84d8 schema:name Springer Nature - SN SciGraph project
120 rdf:type schema:Organization
121 Nace3267e683041e2af4590df3a7652fb rdf:first sg:person.0641076405.68
122 rdf:rest rdf:nil
123 Nb11c14b5d8f347b9a79bcb2f518555fd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Heterozygote
125 rdf:type schema:DefinedTerm
126 Nb149941e458c4a89b4092de0d727dec8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Base Sequence
128 rdf:type schema:DefinedTerm
129 Nb22373cad7574c7ebed9d3ad3bdc4214 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Phenotype
131 rdf:type schema:DefinedTerm
132 Nb252f31fb7dd4b1d9f5d5bc913a0edad rdf:first sg:person.01146513020.16
133 rdf:rest Nbd33ae3ba58e469da65d23ad12e895b3
134 Nb5eb2907469b48debcfa7049615ce37d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Germ-Line Mutation
136 rdf:type schema:DefinedTerm
137 Nbc4ea8068490476eb0a790818029213f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Polymerase Chain Reaction
139 rdf:type schema:DefinedTerm
140 Nbd33ae3ba58e469da65d23ad12e895b3 rdf:first sg:person.01214626220.18
141 rdf:rest N8a0071bd19fa4922aa9f8ecf76b2edd9
142 Nbe61f0f8d463498a8d0d9c20ac0da91b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Founder Effect
144 rdf:type schema:DefinedTerm
145 Nbe8e2b44132f4d0a9f36d7298b8a1496 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Female
147 rdf:type schema:DefinedTerm
148 Nc3cc1ca70383475caccb15dd818549ba schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name BRCA2 Protein
150 rdf:type schema:DefinedTerm
151 Nc6042e5ed1e049808e6f7c94f4eee2d3 rdf:first sg:person.0765377607.72
152 rdf:rest Nace3267e683041e2af4590df3a7652fb
153 Nc80ce644ff0c4b54a130da0eb71b8dac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Prognosis
155 rdf:type schema:DefinedTerm
156 Nd286763d26d14df28b3a0dd3736e7f44 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name Genetic Predisposition to Disease
158 rdf:type schema:DefinedTerm
159 Ndcc2e9fa5d8641928a900d9dcdf9c2ff rdf:first sg:person.01134527303.37
160 rdf:rest N9cbbdc0c6f4a4bb4aa8d3a430513e3ea
161 Ne5577e0d0668424c9d1c7b2e0428d09c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Gastrointestinal Neoplasms
163 rdf:type schema:DefinedTerm
164 Neaf75b238309401a8fd3497b1adaefab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Genetic Testing
166 rdf:type schema:DefinedTerm
167 Nfce9a4ac64a64338a0437ea316fb245c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
168 schema:name Breast Neoplasms
169 rdf:type schema:DefinedTerm
170 Nfcee04badd7d4aefaabb7eb08ce2750c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Tongue Neoplasms
172 rdf:type schema:DefinedTerm
173 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
174 schema:name Medical and Health Sciences
175 rdf:type schema:DefinedTerm
176 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
177 schema:name Oncology and Carcinogenesis
178 rdf:type schema:DefinedTerm
179 sg:journal.1021923 schema:issn 1389-9600
180 1573-7292
181 schema:name Familial Cancer
182 rdf:type schema:Periodical
183 sg:person.01024457377.85 schema:affiliation https://www.grid.ac/institutes/grid.8536.8
184 schema:familyName Santos
185 schema:givenName Anna Cláudia E.
186 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024457377.85
187 rdf:type schema:Person
188 sg:person.01134527303.37 schema:affiliation https://www.grid.ac/institutes/grid.418068.3
189 schema:familyName Ramos
190 schema:givenName Jesus P.
191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134527303.37
192 rdf:type schema:Person
193 sg:person.01146513020.16 schema:affiliation https://www.grid.ac/institutes/grid.419166.d
194 schema:familyName Bobrovnitchaia
195 schema:givenName Irina G.
196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146513020.16
197 rdf:type schema:Person
198 sg:person.01154437632.40 schema:affiliation https://www.grid.ac/institutes/grid.435544.7
199 schema:familyName Peixoto
200 schema:givenName Ana
201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154437632.40
202 rdf:type schema:Person
203 sg:person.01214626220.18 schema:affiliation https://www.grid.ac/institutes/grid.467095.9
204 schema:familyName Lima
205 schema:givenName Maria Angélica F. D.
206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214626220.18
207 rdf:type schema:Person
208 sg:person.014142632472.51 schema:affiliation https://www.grid.ac/institutes/grid.419166.d
209 schema:familyName Moreira
210 schema:givenName Miguel A. M.
211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014142632472.51
212 rdf:type schema:Person
213 sg:person.0605450520.04 schema:affiliation https://www.grid.ac/institutes/grid.419166.d
214 schema:familyName Souza
215 schema:givenName Kelly R. L.
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605450520.04
217 rdf:type schema:Person
218 sg:person.0641076405.68 schema:affiliation https://www.grid.ac/institutes/grid.8536.8
219 schema:familyName Vargas
220 schema:givenName Fernando R.
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641076405.68
222 rdf:type schema:Person
223 sg:person.0765377607.72 schema:affiliation https://www.grid.ac/institutes/grid.435544.7
224 schema:familyName Teixeira
225 schema:givenName Manuel R.
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765377607.72
227 rdf:type schema:Person
228 sg:pub.10.1007/s10549-008-0214-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1038590711
229 https://doi.org/10.1007/s10549-008-0214-z
230 rdf:type schema:CreativeWork
231 sg:pub.10.1007/s10549-008-9978-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023614050
232 https://doi.org/10.1007/s10549-008-9978-4
233 rdf:type schema:CreativeWork
234 sg:pub.10.1007/s10549-010-1036-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018363921
235 https://doi.org/10.1007/s10549-010-1036-3
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1002/humu.9366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050141626
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1086/301670 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007199629
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1093/annonc/mdm234 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035691141
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1093/annonc/mdq663 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044192986
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1200/jco.2002.05.121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064202989
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1200/jco.2006.06.9443 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043870539
248 rdf:type schema:CreativeWork
249 https://www.grid.ac/institutes/grid.418068.3 schema:alternateName Oswaldo Cruz Foundation
250 schema:name Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
251 Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil
252 rdf:type schema:Organization
253 https://www.grid.ac/institutes/grid.419166.d schema:alternateName Instituto Nacional do Câncer
254 schema:name Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil
255 rdf:type schema:Organization
256 https://www.grid.ac/institutes/grid.435544.7 schema:alternateName IPO Porto
257 schema:name Serviço de Genética, Instituto Português de Oncologia do Porto, Porto, Portugal
258 rdf:type schema:Organization
259 https://www.grid.ac/institutes/grid.467095.9 schema:alternateName Federal University of the State of Rio de Janeiro
260 schema:name Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
261 Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil
262 rdf:type schema:Organization
263 https://www.grid.ac/institutes/grid.8536.8 schema:alternateName Federal University of Rio de Janeiro
264 schema:name Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
265 Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
266 Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil
267 rdf:type schema:Organization
 




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


...