Ontology type: schema:ScholarlyArticle Open Access: True
2014-09-13
AUTHORSFangqi Liu, Li Yang, Xiaoyan Zhou, Weiqi Sheng, Sanjun Cai, Lei Liu, Peng Nan, Ye Xu
ABSTRACTThe aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fudan criteria and the revised Bethesda guideline, respectively. Direct DNA sequencing of all exons of hMSH2 and hMLH1 genes were performed on all 116 samples. Mutations and clinicopathological features were compared between the groups. Thirty-two pathological germline mutations were identified. Out of 32 mutations, 16 were located at hMLH1 and 16 at hMSH2. The sensitivity of Amsterdam criteria was 50%, specificity was 81%, and Youden's index was 31%. The sensitivity of Fudan criteria was 75%, specificity was 58%, and Youden's index was 33%. Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchronous and metachronous colon cancers than families with hMLH1 mutation (33 vs. 6%, P=0.04). Patients with hMSH2 mutation more frequently harbour synchronous and metachronous colon cancers. Fudan criteria had a little higher sensitivity and accuracy than Amsterdam criteria for identification of Chinese HNPCC. More... »
PAGES223
http://scigraph.springernature.com/pub.10.1007/s12032-014-0223-1
DOIhttp://dx.doi.org/10.1007/s12032-014-0223-1
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1005653051
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/25216868
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/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1112",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Oncology and Carcinogenesis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adaptor Proteins, Signal Transducing",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Asian Continental Ancestry Group",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "China",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Colorectal Neoplasms, Hereditary Nonpolyposis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Mutational Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Association Studies",
"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": "MutL Protein Homolog 1",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "MutS Homolog 2 Protein",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nuclear Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Registries",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.11841.3d",
"name": [
"Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Liu",
"givenName": "Fangqi",
"id": "sg:person.01011323604.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011323604.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.11841.3d",
"name": [
"Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Yang",
"givenName": "Li",
"id": "sg:person.01124011412.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124011412.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.452404.3",
"name": [
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Zhou",
"givenName": "Xiaoyan",
"id": "sg:person.01010610662.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010610662.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.452404.3",
"name": [
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Sheng",
"givenName": "Weiqi",
"id": "sg:person.07410027302.62",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410027302.62"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.11841.3d",
"name": [
"Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Cai",
"givenName": "Sanjun",
"id": "sg:person.01227612515.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227612515.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Shanghai Medical College of Fudan University, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.11841.3d",
"name": [
"Shanghai Medical College of Fudan University, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Liu",
"givenName": "Lei",
"id": "sg:person.013222675645.01",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013222675645.01"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University, Shanghai, 200433 China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University, Shanghai, 200433 China"
],
"type": "Organization"
},
"familyName": "Nan",
"givenName": "Peng",
"id": "sg:person.0755014425.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755014425.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China",
"id": "http://www.grid.ac/institutes/grid.11841.3d",
"name": [
"Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, 200032 China",
"Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032 China"
],
"type": "Organization"
},
"familyName": "Xu",
"givenName": "Ye",
"id": "sg:person.013524133445.65",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013524133445.65"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/368258a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040515741",
"https://doi.org/10.1038/368258a0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1897-4287-7-14",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044652982",
"https://doi.org/10.1186/1897-4287-7-14"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1197-271",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042080593",
"https://doi.org/10.1038/ng1197-271"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1023/b:fame.0000026810.99776.e9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051377280",
"https://doi.org/10.1023/b:fame.0000026810.99776.e9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5201584",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036509480",
"https://doi.org/10.1038/sj.ejhg.5201584"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/371075a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024767107",
"https://doi.org/10.1038/371075a0"
],
"type": "CreativeWork"
}
],
"datePublished": "2014-09-13",
"datePublishedReg": "2014-09-13",
"description": "The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fudan criteria and the revised Bethesda guideline, respectively. Direct DNA sequencing of all exons of hMSH2 and hMLH1 genes were performed on all 116 samples. Mutations and clinicopathological features were compared between the groups. Thirty-two pathological germline mutations were identified. Out of 32 mutations, 16 were located at hMLH1 and 16 at hMSH2. The sensitivity of Amsterdam criteria was 50%, specificity was 81%, and Youden's index was 31%. The sensitivity of Fudan criteria was 75%, specificity was 58%, and Youden's index was 33%. Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchronous and metachronous colon cancers than families with hMLH1 mutation (33 vs. 6%, P=0.04). Patients with hMSH2 mutation more frequently harbour synchronous and metachronous colon cancers. Fudan criteria had a little higher sensitivity and accuracy than Amsterdam criteria for identification of Chinese HNPCC.",
"genre": "article",
"id": "sg:pub.10.1007/s12032-014-0223-1",
"inLanguage": "en",
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1094524",
"issn": [
"1357-0560",
"1559-131X"
],
"name": "Medical Oncology",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "10",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "31"
}
],
"keywords": [
"hereditary nonpolyposis colorectal cancer",
"metachronous colon cancer",
"nonpolyposis colorectal cancer",
"Fudan criteria",
"Amsterdam criteria",
"colorectal cancer",
"colon cancer",
"hMSH2 mutations",
"Youden index",
"pathological germline mutations",
"Bethesda guidelines",
"clinicopathological features",
"clinical value",
"HNPCC families",
"direct DNA sequencing",
"germline mutations",
"cancer",
"unrelated probands",
"hMLH1 mutations",
"hMLH1 gene",
"genetic features",
"hMSH2",
"total",
"mutations",
"index",
"patients",
"DNA sequencing",
"criteria",
"registry",
"specificity",
"probands",
"hMLH1",
"sensitivity",
"family",
"high ratio",
"guidelines",
"phenotype",
"group",
"aim",
"high sensitivity",
"genotypes",
"study",
"sequencing",
"genes",
"features",
"different criteria",
"samples",
"identification",
"relationship",
"ratio",
"exons",
"values",
"accuracy",
"Chinese hereditary nonpolyposis colorectal cancer",
"Fudan Colorectal Registry",
"Colorectal Registry",
"exons of hMSH2",
"little higher sensitivity"
],
"name": "Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)",
"pagination": "223",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1005653051"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s12032-014-0223-1"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"25216868"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s12032-014-0223-1",
"https://app.dimensions.ai/details/publication/pub.1005653051"
],
"sdDataset": "articles",
"sdDatePublished": "2022-01-01T18:34",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_642.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s12032-014-0223-1"
}
]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.10.1007/s12032-014-0223-1'
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/s12032-014-0223-1'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12032-014-0223-1'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12032-014-0223-1'
This table displays all metadata directly associated to this object as RDF triples.
259 TRIPLES
22 PREDICATES
104 URIs
90 LITERALS
21 BLANK NODES