Ontology type: schema:ScholarlyArticle
1996-05
AUTHORSF J Couch, L M Farid, M L DeShano, S V Tavtigian, K Calzone, L Campeau, Y Peng, B Bogden, Q Chen, S Neuhausen, D Shattuck-Eidens, A K Godwin, M Daly, D M Radford, S Sedlacek, J Rommens, J Simard, J Garber, S Merajver, B L Weber
ABSTRACTThe breast cancer susceptibility gene, BRCA2 on chromosome 13q12-13, was recently isolated. Mutations in BRCA2 are thought to account for as much as 35% of all inherited breast cancer as wall as a proportion of inherited ovarian cancer. Many BRCA2-linked families also contain cases of male breast cancer. We have analysed germline DNA from 50 males with breast cancer (unselected for family history) and 26 individuals from site-specific female breast and breast-ovarian cancer families for mutations in BRCA2. All 17 breast-ovarian cancer families have been screened for BRCA1 coding region mutations and none were detected. Conformation-sensitive gel electrophoresis (CSGE) analysis of PCR-amplified DNA followed by direct sequencing was used to detect sequence variants. Three of eleven individuals carry the same mutation, all are of Ashkenazi Jewish descent, supporting the observation by Neuhausen et al. in this issue that there is a common mutation in this population. Eleven truncating mutations and nine polymorphisms were identified -- all were coding region variants. No loss-of-transcript mutations were identified in the sixteen samples for which this analysis was possible. Seven of the nine disease-associated mutations were detected in the 50 men with breast cancers; for thus in our series, BRCA2 mutations account for 14% of male breast cancer, all but one of which had a family history of male and/or female breast cancer. More... »
PAGES123-125
http://scigraph.springernature.com/pub.10.1038/ng0596-123
DOIhttp://dx.doi.org/10.1038/ng0596-123
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1033316917
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/8673091
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": "BRCA2 Protein",
"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": "DNA",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Mutational Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Primers",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Disease Susceptibility",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Exons",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Family",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Markers",
"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": "Neoplasm Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Ovarian Neoplasms",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymerase Chain Reaction",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Genetic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Transcription Factors",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "University of Pennsylvania",
"id": "https://www.grid.ac/institutes/grid.25879.31",
"name": [
"Department of Medicine, 1010 Stellar Chance Laboratories, University of Pennsylvania, Philadelphia, 19104, USA."
],
"type": "Organization"
},
"familyName": "Couch",
"givenName": "F J",
"id": "sg:person.01070337133.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070337133.28"
],
"type": "Person"
},
{
"familyName": "Farid",
"givenName": "L M",
"id": "sg:person.0631220250.72",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631220250.72"
],
"type": "Person"
},
{
"familyName": "DeShano",
"givenName": "M L",
"id": "sg:person.0745446650.80",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0745446650.80"
],
"type": "Person"
},
{
"familyName": "Tavtigian",
"givenName": "S V",
"id": "sg:person.0621661302.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621661302.48"
],
"type": "Person"
},
{
"familyName": "Calzone",
"givenName": "K",
"type": "Person"
},
{
"familyName": "Campeau",
"givenName": "L",
"id": "sg:person.01312352250.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312352250.26"
],
"type": "Person"
},
{
"familyName": "Peng",
"givenName": "Y",
"id": "sg:person.0635061350.61",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635061350.61"
],
"type": "Person"
},
{
"familyName": "Bogden",
"givenName": "B",
"type": "Person"
},
{
"familyName": "Chen",
"givenName": "Q",
"id": "sg:person.01212062610.59",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212062610.59"
],
"type": "Person"
},
{
"familyName": "Neuhausen",
"givenName": "S",
"id": "sg:person.01334521133.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334521133.00"
],
"type": "Person"
},
{
"familyName": "Shattuck-Eidens",
"givenName": "D",
"id": "sg:person.01046305071.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046305071.31"
],
"type": "Person"
},
{
"familyName": "Godwin",
"givenName": "A K",
"id": "sg:person.013742301737.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013742301737.14"
],
"type": "Person"
},
{
"familyName": "Daly",
"givenName": "M",
"id": "sg:person.014434447632.94",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014434447632.94"
],
"type": "Person"
},
{
"familyName": "Radford",
"givenName": "D M",
"type": "Person"
},
{
"familyName": "Sedlacek",
"givenName": "S",
"type": "Person"
},
{
"familyName": "Rommens",
"givenName": "J",
"id": "sg:person.01355172356.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355172356.46"
],
"type": "Person"
},
{
"familyName": "Simard",
"givenName": "J",
"id": "sg:person.013362555532.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013362555532.46"
],
"type": "Person"
},
{
"familyName": "Garber",
"givenName": "J",
"id": "sg:person.0575516756.07",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575516756.07"
],
"type": "Person"
},
{
"familyName": "Merajver",
"givenName": "S",
"id": "sg:person.0725527540.93",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725527540.93"
],
"type": "Person"
},
{
"familyName": "Weber",
"givenName": "B L",
"id": "sg:person.013374743752.41",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013374743752.41"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/ng0396-333",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013077376",
"https://doi.org/10.1038/ng0396-333"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.86.14.5247",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030822074"
],
"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.10.1038/ng0596-126",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041481850",
"https://doi.org/10.1038/ng0596-126"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.86.8.2766",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044680774"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.8091231",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062652236"
],
"type": "CreativeWork"
}
],
"datePublished": "1996-05",
"datePublishedReg": "1996-05-01",
"description": "The breast cancer susceptibility gene, BRCA2 on chromosome 13q12-13, was recently isolated. Mutations in BRCA2 are thought to account for as much as 35% of all inherited breast cancer as wall as a proportion of inherited ovarian cancer. Many BRCA2-linked families also contain cases of male breast cancer. We have analysed germline DNA from 50 males with breast cancer (unselected for family history) and 26 individuals from site-specific female breast and breast-ovarian cancer families for mutations in BRCA2. All 17 breast-ovarian cancer families have been screened for BRCA1 coding region mutations and none were detected. Conformation-sensitive gel electrophoresis (CSGE) analysis of PCR-amplified DNA followed by direct sequencing was used to detect sequence variants. Three of eleven individuals carry the same mutation, all are of Ashkenazi Jewish descent, supporting the observation by Neuhausen et al. in this issue that there is a common mutation in this population. Eleven truncating mutations and nine polymorphisms were identified -- all were coding region variants. No loss-of-transcript mutations were identified in the sixteen samples for which this analysis was possible. Seven of the nine disease-associated mutations were detected in the 50 men with breast cancers; for thus in our series, BRCA2 mutations account for 14% of male breast cancer, all but one of which had a family history of male and/or female breast cancer.",
"genre": "research_article",
"id": "sg:pub.10.1038/ng0596-123",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isFundedItemOf": [
{
"id": "sg:grant.2372471",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2682634",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2471246",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.7137511",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1103138",
"issn": [
"1061-4036",
"1546-1718"
],
"name": "Nature Genetics",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "13"
}
],
"name": "BRCA2 germline mutations in male breast cancer cases and breast cancer families",
"pagination": "123-125",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"9eb748e53add9f323517d4bc87afb3ed9048981dd10407c0b59da473d20ffcba"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"8673091"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9216904"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/ng0596-123"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1033316917"
]
}
],
"sameAs": [
"https://doi.org/10.1038/ng0596-123",
"https://app.dimensions.ai/details/publication/pub.1033316917"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T23:13",
"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_8693_00000434.jsonl",
"type": "ScholarlyArticle",
"url": "http://www.nature.com/articles/ng0596-123"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng0596-123'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng0596-123'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng0596-123'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng0596-123'
This table displays all metadata directly associated to this object as RDF triples.
292 TRIPLES
21 PREDICATES
56 URIs
42 LITERALS
30 BLANK NODES