Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-11

AUTHORS

Annika Lindblom, Pia Tannergård, Barbro Werelius, Magnus Nordenskjöld

ABSTRACT

Hereditary colon cancer is caused by mutations in several different loci. The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary–non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. One gene causing HNPCC was recently mapped to chromosome 2 but the same study also showed that at least one additional locus may cause HNPCC. We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder. More... »

PAGES

279-282

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1193-279

DOI

http://dx.doi.org/10.1038/ng1193-279

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039824484

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7903889


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "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"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "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": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 3", 
        "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, Satellite", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Linkage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "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": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Restriction Fragment Length", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lindblom", 
        "givenName": "Annika", 
        "id": "sg:person.01237343617.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237343617.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tannerg\u00e5rd", 
        "givenName": "Pia", 
        "id": "sg:person.01121606322.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121606322.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Werelius", 
        "givenName": "Barbro", 
        "id": "sg:person.01207616301.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207616301.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden", 
          "id": "http://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nordenskj\u00f6ld", 
        "givenName": "Magnus", 
        "id": "sg:person.01355041577.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355041577.00"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/328614a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049552358", 
          "https://doi.org/10.1038/328614a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/363558a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043263395", 
          "https://doi.org/10.1038/363558a0"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1993-11", 
    "datePublishedReg": "1993-11-01", 
    "description": "Hereditary colon cancer is caused by mutations in several different loci. The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary\u2013non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. One gene causing HNPCC was recently mapped to chromosome 2 but the same study also showed that at least one additional locus may cause HNPCC. We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/ng1193-279", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "5"
      }
    ], 
    "keywords": [
      "hereditary non-polyposis colon cancer", 
      "adenomatous polyposis coli", 
      "genetic mapping", 
      "human colon cancer", 
      "chromosome 3", 
      "chromosome 5", 
      "additional loci", 
      "different loci", 
      "tight linkage", 
      "disease locus", 
      "short arm", 
      "polymorphic markers", 
      "hereditary colon cancer", 
      "colon cancer", 
      "APC gene", 
      "loci", 
      "polyposis coli", 
      "genes", 
      "colon cancer cases", 
      "mutations", 
      "coli", 
      "family", 
      "cancer", 
      "markers", 
      "linkage", 
      "mapping", 
      "cancer cases", 
      "same study", 
      "study", 
      "arm", 
      "disorders", 
      "percent", 
      "cases", 
      "signs", 
      "minority"
    ], 
    "name": "Genetic mapping of a second locus predisposing to hereditary non\u2013polyposis colon cancer", 
    "pagination": "279-282", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1039824484"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1193-279"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "7903889"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1193-279", 
      "https://app.dimensions.ai/details/publication/pub.1039824484"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-06-01T21:59", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220601/entities/gbq_results/article/article_259.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/ng1193-279"
  }
]
 

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.10.1038/ng1193-279'

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/ng1193-279'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1193-279'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1193-279'


 

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

182 TRIPLES      22 PREDICATES      78 URIs      66 LITERALS      19 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1193-279 schema:about N0af5a31896fe4cc081709e54bbb48b1a
2 N0b6206b4a33b4621a5b0fe56ecdf07ce
3 N16dde3037a9c405c8997ed9a1610873b
4 N1ed52e01457944939a1efd64f2317d5d
5 N307e4be50ff741bf8ac9eaef99f58225
6 N425efb29955440d99da9edf62f75a50f
7 N4de4b85d6224409b951ecea069f75d95
8 N69b010ae2c884817ad6527d64d0bb53c
9 N7e04ddb4ec0f46338eeb7be965150341
10 N8b284d90ee824b62bfb697a1bc3f5e0c
11 Naf84d924667c4287a416d58e93259346
12 Nb0dcdf530da14f4b8a09560ec412b676
13 anzsrc-for:06
14 anzsrc-for:0604
15 anzsrc-for:11
16 anzsrc-for:1112
17 schema:author N9da0e5726ee34f9286886a33139071a9
18 schema:citation sg:pub.10.1038/328614a0
19 sg:pub.10.1038/363558a0
20 schema:datePublished 1993-11
21 schema:datePublishedReg 1993-11-01
22 schema:description Hereditary colon cancer is caused by mutations in several different loci. The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary–non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. One gene causing HNPCC was recently mapped to chromosome 2 but the same study also showed that at least one additional locus may cause HNPCC. We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder.
23 schema:genre article
24 schema:inLanguage en
25 schema:isAccessibleForFree false
26 schema:isPartOf Na6d0863be6fd49fda17998d955efd828
27 Nf296eaf336d34f5b84a3f0729a824ef6
28 sg:journal.1103138
29 schema:keywords APC gene
30 additional loci
31 adenomatous polyposis coli
32 arm
33 cancer
34 cancer cases
35 cases
36 chromosome 3
37 chromosome 5
38 coli
39 colon cancer
40 colon cancer cases
41 different loci
42 disease locus
43 disorders
44 family
45 genes
46 genetic mapping
47 hereditary colon cancer
48 hereditary non-polyposis colon cancer
49 human colon cancer
50 linkage
51 loci
52 mapping
53 markers
54 minority
55 mutations
56 percent
57 polymorphic markers
58 polyposis coli
59 same study
60 short arm
61 signs
62 study
63 tight linkage
64 schema:name Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer
65 schema:pagination 279-282
66 schema:productId N0050b85b10354030b44f44d4ccd05126
67 N3e4c69c8822d4061a138f1f317ff9ebd
68 N9a281aa6307642b0b3e8e09c3a5c42a6
69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039824484
70 https://doi.org/10.1038/ng1193-279
71 schema:sdDatePublished 2022-06-01T21:59
72 schema:sdLicense https://scigraph.springernature.com/explorer/license/
73 schema:sdPublisher Ndc88cbb9d79a47029a255797fdbe760a
74 schema:url https://doi.org/10.1038/ng1193-279
75 sgo:license sg:explorer/license/
76 sgo:sdDataset articles
77 rdf:type schema:ScholarlyArticle
78 N0050b85b10354030b44f44d4ccd05126 schema:name pubmed_id
79 schema:value 7903889
80 rdf:type schema:PropertyValue
81 N0af5a31896fe4cc081709e54bbb48b1a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Colorectal Neoplasms, Hereditary Nonpolyposis
83 rdf:type schema:DefinedTerm
84 N0b6206b4a33b4621a5b0fe56ecdf07ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Genetic Predisposition to Disease
86 rdf:type schema:DefinedTerm
87 N16dde3037a9c405c8997ed9a1610873b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Male
89 rdf:type schema:DefinedTerm
90 N1ed52e01457944939a1efd64f2317d5d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Humans
92 rdf:type schema:DefinedTerm
93 N2f56afd49e724988a63c4daa529581d2 rdf:first sg:person.01207616301.08
94 rdf:rest N4974d2e1a2eb486bb1971e3a70f9c150
95 N307e4be50ff741bf8ac9eaef99f58225 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Pedigree
97 rdf:type schema:DefinedTerm
98 N3e4c69c8822d4061a138f1f317ff9ebd schema:name dimensions_id
99 schema:value pub.1039824484
100 rdf:type schema:PropertyValue
101 N425efb29955440d99da9edf62f75a50f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Female
103 rdf:type schema:DefinedTerm
104 N4974d2e1a2eb486bb1971e3a70f9c150 rdf:first sg:person.01355041577.00
105 rdf:rest rdf:nil
106 N4de4b85d6224409b951ecea069f75d95 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Chromosomes, Human, Pair 3
108 rdf:type schema:DefinedTerm
109 N69b010ae2c884817ad6527d64d0bb53c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Chromosome Mapping
111 rdf:type schema:DefinedTerm
112 N7e04ddb4ec0f46338eeb7be965150341 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Polymorphism, Restriction Fragment Length
114 rdf:type schema:DefinedTerm
115 N8b284d90ee824b62bfb697a1bc3f5e0c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Genetic Linkage
117 rdf:type schema:DefinedTerm
118 N9a281aa6307642b0b3e8e09c3a5c42a6 schema:name doi
119 schema:value 10.1038/ng1193-279
120 rdf:type schema:PropertyValue
121 N9da0e5726ee34f9286886a33139071a9 rdf:first sg:person.01237343617.69
122 rdf:rest Nb4dc33d434984a5f898a565f8f7dfc66
123 Na6d0863be6fd49fda17998d955efd828 schema:volumeNumber 5
124 rdf:type schema:PublicationVolume
125 Naf84d924667c4287a416d58e93259346 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Mutation
127 rdf:type schema:DefinedTerm
128 Nb0dcdf530da14f4b8a09560ec412b676 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name DNA, Satellite
130 rdf:type schema:DefinedTerm
131 Nb4dc33d434984a5f898a565f8f7dfc66 rdf:first sg:person.01121606322.31
132 rdf:rest N2f56afd49e724988a63c4daa529581d2
133 Ndc88cbb9d79a47029a255797fdbe760a schema:name Springer Nature - SN SciGraph project
134 rdf:type schema:Organization
135 Nf296eaf336d34f5b84a3f0729a824ef6 schema:issueNumber 3
136 rdf:type schema:PublicationIssue
137 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
138 schema:name Biological Sciences
139 rdf:type schema:DefinedTerm
140 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
141 schema:name Genetics
142 rdf:type schema:DefinedTerm
143 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
144 schema:name Medical and Health Sciences
145 rdf:type schema:DefinedTerm
146 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
147 schema:name Oncology and Carcinogenesis
148 rdf:type schema:DefinedTerm
149 sg:journal.1103138 schema:issn 1061-4036
150 1546-1718
151 schema:name Nature Genetics
152 schema:publisher Springer Nature
153 rdf:type schema:Periodical
154 sg:person.01121606322.31 schema:affiliation grid-institutes:grid.24381.3c
155 schema:familyName Tannergård
156 schema:givenName Pia
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121606322.31
158 rdf:type schema:Person
159 sg:person.01207616301.08 schema:affiliation grid-institutes:grid.24381.3c
160 schema:familyName Werelius
161 schema:givenName Barbro
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207616301.08
163 rdf:type schema:Person
164 sg:person.01237343617.69 schema:affiliation grid-institutes:grid.24381.3c
165 schema:familyName Lindblom
166 schema:givenName Annika
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237343617.69
168 rdf:type schema:Person
169 sg:person.01355041577.00 schema:affiliation grid-institutes:grid.24381.3c
170 schema:familyName Nordenskjöld
171 schema:givenName Magnus
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355041577.00
173 rdf:type schema:Person
174 sg:pub.10.1038/328614a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049552358
175 https://doi.org/10.1038/328614a0
176 rdf:type schema:CreativeWork
177 sg:pub.10.1038/363558a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043263395
178 https://doi.org/10.1038/363558a0
179 rdf:type schema:CreativeWork
180 grid-institutes:grid.24381.3c schema:alternateName Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden
181 schema:name Department of Clinical Genetics, Karolinska Hospital, S-104 01, Stockholm, Sweden
182 rdf:type schema:Organization
 




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


...