Germline MC1R status influences somatic mutation burden in melanoma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-07-12

AUTHORS

Carla Daniela Robles-Espinoza, Nicola D. Roberts, Shuyang Chen, Finbarr P. Leacy, Ludmil B. Alexandrov, Natapol Pornputtapong, Ruth Halaban, Michael Krauthammer, Rutao Cui, D. Timothy Bishop, David J. Adams

ABSTRACT

The major genetic determinants of cutaneous melanoma risk in the general population are disruptive variants (R alleles) in the melanocortin 1 receptor (MC1R) gene. These alleles are also linked to red hair, freckling, and sun sensitivity, all of which are known melanoma phenotypic risk factors. Here we report that in melanomas and for somatic C>T mutations, a signature linked to sun exposure, the expected single-nucleotide variant count associated with the presence of an R allele is estimated to be 42% (95% CI, 15–76%) higher than that among persons without an R allele. This figure is comparable to the expected mutational burden associated with an additional 21 years of age. We also find significant and similar enrichment of non-C>T mutation classes supporting a role for additional mutagenic processes in melanoma development in individuals carrying R alleles. More... »

PAGES

12064

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms12064

DOI

http://dx.doi.org/10.1038/ncomms12064

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003178812

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27403562


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": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "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 Variation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Germ-Line Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hair Color", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Head and Neck Neoplasms", 
        "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": "Melanoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Melanosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation Accumulation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neoplasm Invasiveness", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Receptor, Melanocortin, Type 1", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Skin Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Skin Pigmentation", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Campus Juriquilla, Boulevard Juriquilla 3001, 76230, Santiago de Quer\u00e9taro, Mexico", 
          "id": "http://www.grid.ac/institutes/grid.9486.3", 
          "name": [
            "Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK", 
            "Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Campus Juriquilla, Boulevard Juriquilla 3001, 76230, Santiago de Quer\u00e9taro, Mexico"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Robles-Espinoza", 
        "givenName": "Carla Daniela", 
        "id": "sg:person.01350645631.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350645631.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK", 
          "id": "http://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK", 
            "The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roberts", 
        "givenName": "Nicola D.", 
        "id": "sg:person.01131202135.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131202135.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA", 
          "id": "http://www.grid.ac/institutes/grid.189504.1", 
          "name": [
            "Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chen", 
        "givenName": "Shuyang", 
        "id": "sg:person.0746475637.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746475637.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Population Health Sciences, Royal College of Surgeons in Ireland, Lower Mercer Street, Dublin 2, Ireland", 
          "id": "http://www.grid.ac/institutes/grid.4912.e", 
          "name": [
            "MRC Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, CB2 0SR, Cambridge, UK", 
            "Division of Population Health Sciences, Royal College of Surgeons in Ireland, Lower Mercer Street, Dublin 2, Ireland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leacy", 
        "givenName": "Finbarr P.", 
        "id": "sg:person.01006273534.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006273534.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK", 
          "id": "http://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alexandrov", 
        "givenName": "Ludmil B.", 
        "id": "sg:person.01015727075.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015727075.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA", 
          "id": "http://www.grid.ac/institutes/grid.47100.32", 
          "name": [
            "Department of Pathology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pornputtapong", 
        "givenName": "Natapol", 
        "id": "sg:person.0615340451.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615340451.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Dermatology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA", 
          "id": "http://www.grid.ac/institutes/grid.47100.32", 
          "name": [
            "Department of Dermatology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Halaban", 
        "givenName": "Ruth", 
        "id": "sg:person.053601122.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.053601122.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Program in Computational Biology and Bioinformatics, Yale University School of Medicine, 06519, New Haven, Connecticut, USA", 
          "id": "http://www.grid.ac/institutes/grid.47100.32", 
          "name": [
            "Department of Pathology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA", 
            "Program in Computational Biology and Bioinformatics, Yale University School of Medicine, 06519, New Haven, Connecticut, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krauthammer", 
        "givenName": "Michael", 
        "id": "sg:person.01336516000.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336516000.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA", 
          "id": "http://www.grid.ac/institutes/grid.189504.1", 
          "name": [
            "Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cui", 
        "givenName": "Rutao", 
        "id": "sg:person.01076655351.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076655351.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, LS9 7TF, Leeds, UK", 
          "id": "http://www.grid.ac/institutes/grid.9909.9", 
          "name": [
            "Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, LS9 7TF, Leeds, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Timothy Bishop", 
        "givenName": "D.", 
        "id": "sg:person.0737760342.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737760342.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK", 
          "id": "http://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Adams", 
        "givenName": "David J.", 
        "id": "sg:person.012522367447.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012522367447.42"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng1195-328", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011255753", 
          "https://doi.org/10.1038/ng1195-328"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.411", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022055276", 
          "https://doi.org/10.1038/ng.411"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11624", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010012058", 
          "https://doi.org/10.1038/nature11624"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2359", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021618497", 
          "https://doi.org/10.1038/ng.2359"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08658", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014288207", 
          "https://doi.org/10.1038/nature08658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nbt.2514", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000477771", 
          "https://doi.org/10.1038/nbt.2514"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12477", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050004918", 
          "https://doi.org/10.1038/nature12477"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11071", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015512980", 
          "https://doi.org/10.1038/nature11071"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-62703-739-6_37", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051451496", 
          "https://doi.org/10.1007/978-1-62703-739-6_37"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3361", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040467727", 
          "https://doi.org/10.1038/ng.3361"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2016-07-12", 
    "datePublishedReg": "2016-07-12", 
    "description": "The major genetic determinants of cutaneous melanoma risk in the general population are disruptive variants (R alleles) in the melanocortin 1 receptor (MC1R) gene. These alleles are also linked to red hair, freckling, and sun sensitivity, all of which are known melanoma phenotypic risk factors. Here we report that in melanomas and for somatic C>T mutations, a signature linked to sun exposure, the expected single-nucleotide variant count associated with the presence of an R allele is estimated to be 42% (95% CI, 15\u201376%) higher than that among persons without an R allele. This figure is comparable to the expected mutational burden associated with an additional 21 years of age. We also find significant and similar enrichment of non-C>T mutation classes supporting a role for additional mutagenic processes in melanoma development in individuals carrying R alleles.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/ncomms12064", 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2440220", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5475983", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1043282", 
        "issn": [
          "2041-1723"
        ], 
        "name": "Nature Communications", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "7"
      }
    ], 
    "keywords": [
      "R allele", 
      "phenotypic risk factors", 
      "cutaneous melanoma risk", 
      "years of age", 
      "somatic mutation burden", 
      "risk factors", 
      "sun exposure", 
      "mutation burden", 
      "melanoma risk", 
      "general population", 
      "mutational burden", 
      "sun sensitivity", 
      "MC1R status", 
      "major genetic determinant", 
      "melanoma development", 
      "receptor gene", 
      "T mutation", 
      "melanoma", 
      "red hair", 
      "genetic determinants", 
      "mutation classes", 
      "disruptive variants", 
      "burden", 
      "alleles", 
      "melanocortin 1 receptor (MC1R) gene", 
      "age", 
      "risk", 
      "mutagenic processes", 
      "exposure", 
      "count", 
      "status", 
      "population", 
      "years", 
      "variant counts", 
      "mutations", 
      "persons", 
      "individuals", 
      "determinants", 
      "similar enrichment", 
      "factors", 
      "hair", 
      "variants", 
      "genes", 
      "role", 
      "sensitivity", 
      "presence", 
      "development", 
      "signatures", 
      "enrichment", 
      "figures", 
      "class", 
      "process"
    ], 
    "name": "Germline MC1R status influences somatic mutation burden in melanoma", 
    "pagination": "12064", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1003178812"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ncomms12064"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "27403562"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ncomms12064", 
      "https://app.dimensions.ai/details/publication/pub.1003178812"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-10-01T06:42", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221001/entities/gbq_results/article/article_707.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/ncomms12064"
  }
]
 

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/ncomms12064'

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/ncomms12064'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ncomms12064'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ncomms12064'


 

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

341 TRIPLES      21 PREDICATES      110 URIs      90 LITERALS      28 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ncomms12064 schema:about N0c059c8bdc9c4718b01abe87aa8ab08c
2 N1032d1f23e9c40f58a9be99dbe24fd9c
3 N110439c2d1614b07b62e41fd8d7abfa9
4 N2079687ac112404f9a45134708c5b1d7
5 N20d8e783a3b94451912c638a3871e48c
6 N2f1f0e2bc1724bcdabcf038a3b031058
7 N346f8ab2577743ff87c17ba24845aaab
8 N3de983852c2c4f9b9144b69f0e499fd1
9 N3df404d4c9f74202aa3f78d44585cded
10 N539d0f925845404295b41235deecb163
11 N5867005d392f484fbd985bcc7f73c2af
12 N61e775eff88e4ac486749f7459d2ea0f
13 N6bdab9c873904d9aa361994989a25afe
14 N6bfb69b050164ab79fadbea79d4e2600
15 N7dbde453f7dc46be807971d01b0767a4
16 N81a406d4c123445fa86c6527315de212
17 N9bab524f7fcb4e9387cba6d2e6662f5a
18 N9c5dd360383c48a1b2e87c060aeee409
19 Na272f51425f447e392230353c1d84577
20 Nb18cebcc91c64ff29d1a2083bc4b31ef
21 Ncc690d8e7d8345749c65e27d62da5974
22 anzsrc-for:06
23 anzsrc-for:0604
24 anzsrc-for:11
25 anzsrc-for:1112
26 schema:author N22d1cb22ed894d2c8739d586fa58e39f
27 schema:citation sg:pub.10.1007/978-1-62703-739-6_37
28 sg:pub.10.1038/nature08658
29 sg:pub.10.1038/nature11071
30 sg:pub.10.1038/nature11624
31 sg:pub.10.1038/nature12477
32 sg:pub.10.1038/nbt.2514
33 sg:pub.10.1038/ng.2359
34 sg:pub.10.1038/ng.3361
35 sg:pub.10.1038/ng.411
36 sg:pub.10.1038/ng1195-328
37 schema:datePublished 2016-07-12
38 schema:datePublishedReg 2016-07-12
39 schema:description The major genetic determinants of cutaneous melanoma risk in the general population are disruptive variants (R alleles) in the melanocortin 1 receptor (MC1R) gene. These alleles are also linked to red hair, freckling, and sun sensitivity, all of which are known melanoma phenotypic risk factors. Here we report that in melanomas and for somatic C>T mutations, a signature linked to sun exposure, the expected single-nucleotide variant count associated with the presence of an R allele is estimated to be 42% (95% CI, 15–76%) higher than that among persons without an R allele. This figure is comparable to the expected mutational burden associated with an additional 21 years of age. We also find significant and similar enrichment of non-C>T mutation classes supporting a role for additional mutagenic processes in melanoma development in individuals carrying R alleles.
40 schema:genre article
41 schema:isAccessibleForFree true
42 schema:isPartOf Nc71ca8633d784654a3720d4b4db74f89
43 Ncd1ed101ae244b11b2f088b9fb27b40e
44 sg:journal.1043282
45 schema:keywords MC1R status
46 R allele
47 T mutation
48 age
49 alleles
50 burden
51 class
52 count
53 cutaneous melanoma risk
54 determinants
55 development
56 disruptive variants
57 enrichment
58 exposure
59 factors
60 figures
61 general population
62 genes
63 genetic determinants
64 hair
65 individuals
66 major genetic determinant
67 melanocortin 1 receptor (MC1R) gene
68 melanoma
69 melanoma development
70 melanoma risk
71 mutagenic processes
72 mutation burden
73 mutation classes
74 mutational burden
75 mutations
76 persons
77 phenotypic risk factors
78 population
79 presence
80 process
81 receptor gene
82 red hair
83 risk
84 risk factors
85 role
86 sensitivity
87 signatures
88 similar enrichment
89 somatic mutation burden
90 status
91 sun exposure
92 sun sensitivity
93 variant counts
94 variants
95 years
96 years of age
97 schema:name Germline MC1R status influences somatic mutation burden in melanoma
98 schema:pagination 12064
99 schema:productId N3c2eca7b25ee4323a1d2d76985592af7
100 N5ab283d4e8dc48ff97aaa95e850d2ad8
101 N6dd3997a4f484f5ca107e4632494a39d
102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003178812
103 https://doi.org/10.1038/ncomms12064
104 schema:sdDatePublished 2022-10-01T06:42
105 schema:sdLicense https://scigraph.springernature.com/explorer/license/
106 schema:sdPublisher N2be8ee964ac244ce9c5361026aaf72a5
107 schema:url https://doi.org/10.1038/ncomms12064
108 sgo:license sg:explorer/license/
109 sgo:sdDataset articles
110 rdf:type schema:ScholarlyArticle
111 N011afa33f4834d9880c3c5a128704304 rdf:first sg:person.012522367447.42
112 rdf:rest rdf:nil
113 N0c059c8bdc9c4718b01abe87aa8ab08c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Polymorphism, Single Nucleotide
115 rdf:type schema:DefinedTerm
116 N1032d1f23e9c40f58a9be99dbe24fd9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Alleles
118 rdf:type schema:DefinedTerm
119 N110439c2d1614b07b62e41fd8d7abfa9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Melanosis
121 rdf:type schema:DefinedTerm
122 N2079687ac112404f9a45134708c5b1d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Germ-Line Mutation
124 rdf:type schema:DefinedTerm
125 N20d8e783a3b94451912c638a3871e48c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Female
127 rdf:type schema:DefinedTerm
128 N22d1cb22ed894d2c8739d586fa58e39f rdf:first sg:person.01350645631.44
129 rdf:rest N576f5fc329d64dd091b4d890cc86d92d
130 N2be8ee964ac244ce9c5361026aaf72a5 schema:name Springer Nature - SN SciGraph project
131 rdf:type schema:Organization
132 N2f1f0e2bc1724bcdabcf038a3b031058 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Receptor, Melanocortin, Type 1
134 rdf:type schema:DefinedTerm
135 N3237904f83e34f5584d29d80637cc141 rdf:first sg:person.01336516000.48
136 rdf:rest N5eeeb19997c94773a810eea630924162
137 N346f8ab2577743ff87c17ba24845aaab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Middle Aged
139 rdf:type schema:DefinedTerm
140 N3ab7f54ba7e94586b59b55fefe414e52 rdf:first sg:person.0746475637.66
141 rdf:rest N401ee014806843c2af2c241145152334
142 N3c2eca7b25ee4323a1d2d76985592af7 schema:name pubmed_id
143 schema:value 27403562
144 rdf:type schema:PropertyValue
145 N3de983852c2c4f9b9144b69f0e499fd1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Cohort Studies
147 rdf:type schema:DefinedTerm
148 N3df404d4c9f74202aa3f78d44585cded schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Aged
150 rdf:type schema:DefinedTerm
151 N401ee014806843c2af2c241145152334 rdf:first sg:person.01006273534.57
152 rdf:rest N5206aa2ff53a4623996648c4bf2e2042
153 N5206aa2ff53a4623996648c4bf2e2042 rdf:first sg:person.01015727075.97
154 rdf:rest Neb1d9043a29446cfaf62f839fcbbb39a
155 N539d0f925845404295b41235deecb163 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Male
157 rdf:type schema:DefinedTerm
158 N576f5fc329d64dd091b4d890cc86d92d rdf:first sg:person.01131202135.93
159 rdf:rest N3ab7f54ba7e94586b59b55fefe414e52
160 N5867005d392f484fbd985bcc7f73c2af schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Genetic Variation
162 rdf:type schema:DefinedTerm
163 N5ab283d4e8dc48ff97aaa95e850d2ad8 schema:name doi
164 schema:value 10.1038/ncomms12064
165 rdf:type schema:PropertyValue
166 N5dcf889b3e1c42489318668d95ede910 rdf:first sg:person.0737760342.65
167 rdf:rest N011afa33f4834d9880c3c5a128704304
168 N5eeeb19997c94773a810eea630924162 rdf:first sg:person.01076655351.03
169 rdf:rest N5dcf889b3e1c42489318668d95ede910
170 N61e775eff88e4ac486749f7459d2ea0f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Skin Neoplasms
172 rdf:type schema:DefinedTerm
173 N6bdab9c873904d9aa361994989a25afe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Humans
175 rdf:type schema:DefinedTerm
176 N6bfb69b050164ab79fadbea79d4e2600 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Melanoma
178 rdf:type schema:DefinedTerm
179 N6dd3997a4f484f5ca107e4632494a39d schema:name dimensions_id
180 schema:value pub.1003178812
181 rdf:type schema:PropertyValue
182 N7dbde453f7dc46be807971d01b0767a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Hair Color
184 rdf:type schema:DefinedTerm
185 N81a406d4c123445fa86c6527315de212 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Head and Neck Neoplasms
187 rdf:type schema:DefinedTerm
188 N9bab524f7fcb4e9387cba6d2e6662f5a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
189 schema:name Skin Pigmentation
190 rdf:type schema:DefinedTerm
191 N9c5dd360383c48a1b2e87c060aeee409 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
192 schema:name Neoplasm Invasiveness
193 rdf:type schema:DefinedTerm
194 Na272f51425f447e392230353c1d84577 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Genetic Predisposition to Disease
196 rdf:type schema:DefinedTerm
197 Nb18cebcc91c64ff29d1a2083bc4b31ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
198 schema:name Mutation Accumulation
199 rdf:type schema:DefinedTerm
200 Nc71ca8633d784654a3720d4b4db74f89 schema:volumeNumber 7
201 rdf:type schema:PublicationVolume
202 Ncc690d8e7d8345749c65e27d62da5974 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
203 schema:name Mutation
204 rdf:type schema:DefinedTerm
205 Ncd1ed101ae244b11b2f088b9fb27b40e schema:issueNumber 1
206 rdf:type schema:PublicationIssue
207 Nea6ae92872db4884baaa33c8d0398c90 rdf:first sg:person.053601122.01
208 rdf:rest N3237904f83e34f5584d29d80637cc141
209 Neb1d9043a29446cfaf62f839fcbbb39a rdf:first sg:person.0615340451.11
210 rdf:rest Nea6ae92872db4884baaa33c8d0398c90
211 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
212 schema:name Biological Sciences
213 rdf:type schema:DefinedTerm
214 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
215 schema:name Genetics
216 rdf:type schema:DefinedTerm
217 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
218 schema:name Medical and Health Sciences
219 rdf:type schema:DefinedTerm
220 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
221 schema:name Oncology and Carcinogenesis
222 rdf:type schema:DefinedTerm
223 sg:grant.2440220 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms12064
224 rdf:type schema:MonetaryGrant
225 sg:grant.5475983 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms12064
226 rdf:type schema:MonetaryGrant
227 sg:journal.1043282 schema:issn 2041-1723
228 schema:name Nature Communications
229 schema:publisher Springer Nature
230 rdf:type schema:Periodical
231 sg:person.01006273534.57 schema:affiliation grid-institutes:grid.4912.e
232 schema:familyName Leacy
233 schema:givenName Finbarr P.
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006273534.57
235 rdf:type schema:Person
236 sg:person.01015727075.97 schema:affiliation grid-institutes:grid.10306.34
237 schema:familyName Alexandrov
238 schema:givenName Ludmil B.
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015727075.97
240 rdf:type schema:Person
241 sg:person.01076655351.03 schema:affiliation grid-institutes:grid.189504.1
242 schema:familyName Cui
243 schema:givenName Rutao
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076655351.03
245 rdf:type schema:Person
246 sg:person.01131202135.93 schema:affiliation grid-institutes:grid.10306.34
247 schema:familyName Roberts
248 schema:givenName Nicola D.
249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131202135.93
250 rdf:type schema:Person
251 sg:person.012522367447.42 schema:affiliation grid-institutes:grid.10306.34
252 schema:familyName Adams
253 schema:givenName David J.
254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012522367447.42
255 rdf:type schema:Person
256 sg:person.01336516000.48 schema:affiliation grid-institutes:grid.47100.32
257 schema:familyName Krauthammer
258 schema:givenName Michael
259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336516000.48
260 rdf:type schema:Person
261 sg:person.01350645631.44 schema:affiliation grid-institutes:grid.9486.3
262 schema:familyName Robles-Espinoza
263 schema:givenName Carla Daniela
264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350645631.44
265 rdf:type schema:Person
266 sg:person.053601122.01 schema:affiliation grid-institutes:grid.47100.32
267 schema:familyName Halaban
268 schema:givenName Ruth
269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.053601122.01
270 rdf:type schema:Person
271 sg:person.0615340451.11 schema:affiliation grid-institutes:grid.47100.32
272 schema:familyName Pornputtapong
273 schema:givenName Natapol
274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615340451.11
275 rdf:type schema:Person
276 sg:person.0737760342.65 schema:affiliation grid-institutes:grid.9909.9
277 schema:familyName Timothy Bishop
278 schema:givenName D.
279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737760342.65
280 rdf:type schema:Person
281 sg:person.0746475637.66 schema:affiliation grid-institutes:grid.189504.1
282 schema:familyName Chen
283 schema:givenName Shuyang
284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746475637.66
285 rdf:type schema:Person
286 sg:pub.10.1007/978-1-62703-739-6_37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051451496
287 https://doi.org/10.1007/978-1-62703-739-6_37
288 rdf:type schema:CreativeWork
289 sg:pub.10.1038/nature08658 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014288207
290 https://doi.org/10.1038/nature08658
291 rdf:type schema:CreativeWork
292 sg:pub.10.1038/nature11071 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015512980
293 https://doi.org/10.1038/nature11071
294 rdf:type schema:CreativeWork
295 sg:pub.10.1038/nature11624 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010012058
296 https://doi.org/10.1038/nature11624
297 rdf:type schema:CreativeWork
298 sg:pub.10.1038/nature12477 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050004918
299 https://doi.org/10.1038/nature12477
300 rdf:type schema:CreativeWork
301 sg:pub.10.1038/nbt.2514 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000477771
302 https://doi.org/10.1038/nbt.2514
303 rdf:type schema:CreativeWork
304 sg:pub.10.1038/ng.2359 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021618497
305 https://doi.org/10.1038/ng.2359
306 rdf:type schema:CreativeWork
307 sg:pub.10.1038/ng.3361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040467727
308 https://doi.org/10.1038/ng.3361
309 rdf:type schema:CreativeWork
310 sg:pub.10.1038/ng.411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022055276
311 https://doi.org/10.1038/ng.411
312 rdf:type schema:CreativeWork
313 sg:pub.10.1038/ng1195-328 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011255753
314 https://doi.org/10.1038/ng1195-328
315 rdf:type schema:CreativeWork
316 grid-institutes:grid.10306.34 schema:alternateName Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK
317 The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK
318 schema:name Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK
319 The Cancer Genome Project, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK
320 rdf:type schema:Organization
321 grid-institutes:grid.189504.1 schema:alternateName Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA
322 schema:name Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, 02118, Boston, Massachusetts, USA
323 rdf:type schema:Organization
324 grid-institutes:grid.47100.32 schema:alternateName Department of Dermatology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
325 Department of Pathology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
326 Program in Computational Biology and Bioinformatics, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
327 schema:name Department of Dermatology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
328 Department of Pathology, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
329 Program in Computational Biology and Bioinformatics, Yale University School of Medicine, 06519, New Haven, Connecticut, USA
330 rdf:type schema:Organization
331 grid-institutes:grid.4912.e schema:alternateName Division of Population Health Sciences, Royal College of Surgeons in Ireland, Lower Mercer Street, Dublin 2, Ireland
332 schema:name Division of Population Health Sciences, Royal College of Surgeons in Ireland, Lower Mercer Street, Dublin 2, Ireland
333 MRC Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, CB2 0SR, Cambridge, UK
334 rdf:type schema:Organization
335 grid-institutes:grid.9486.3 schema:alternateName Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, 76230, Santiago de Querétaro, Mexico
336 schema:name Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, CB10 1SA, Hinxton, Cambridgeshire, UK
337 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, 76230, Santiago de Querétaro, Mexico
338 rdf:type schema:Organization
339 grid-institutes:grid.9909.9 schema:alternateName Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, LS9 7TF, Leeds, UK
340 schema:name Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, LS9 7TF, Leeds, UK
341 rdf:type schema:Organization
 




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


...