Evidence map›Paper›PMID 27403562›Full record

ArticleNature communications2016

Germline MC1R status influences somatic mutation burden in melanoma.

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 and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 1 pooled it
11.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

66 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.

  1. Pooled it
  2. Unique Features of Melanoma Risk and Diagnosis in Red-Haired Populations.International journal of molecular sciences · 2026
    Review
  3. Article
  4. Article
  5. Article
  6. Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025
    Review
  7. Cell Death Modalities in Therapy of Melanoma.International journal of molecular sciences · 2025
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Phytochemical Constituents and Derivatives ofInternational journal of molecular sciences · 2023
    Review
  19. Article
  20. Review

6 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 4 countries.

Carla Daniela Robles-EspinozaExperimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Nicola D RobertsExperimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Shuyang ChenDepartment of Pharmacology and Experimental Therapeutics, Boston University School of Medicine. Boston, Massachusetts 02118, USA.
Finbarr P LeacyMRC Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.ORCID http://orcid.org/0000-0001-5561-485X
Ludmil B AlexandrovThe Cancer Genome Project, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Natapol PornputtapongDepartment of Pathology, Yale University School of Medicine, New Haven, Connecticut 06519, USA.ORCID http://orcid.org/0000-0002-3833-0537
Ruth HalabanDepartment of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06519, USA.
Michael KrauthammerDepartment of Pathology, Yale University School of Medicine, New Haven, Connecticut 06519, USA.
Rutao CuiDepartment of Pharmacology and Experimental Therapeutics, Boston University School of Medicine. Boston, Massachusetts 02118, USA.
D Timothy BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, LS9 7TF, UK.ORCID http://orcid.org/0000-0002-8752-8785
David J AdamsExperimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Wellcome Sanger Institute · GBYale University · USBoston University · USRoyal College of Surgeons in Ireland · IEUniversity of Leeds · GB

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Yale SPORE in Skin CancerP50CA121974 · NCI · YALE UNIVERSITY · PI DAVID F STERN · 2006 to 2026
$43.9M
Cancer Research UK 10589Cancer Research UK 13031Cancer Research UK 19167NCATS NIH HHS UL1 TR001863NCI NIH HHS P50 CA121974Wellcome Trust
6 · The paper itself

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.

Indexed as

Mutation AccumulationAgedAllelesCohort StudiesFemaleGenetic Predisposition to DiseaseGenetic VariationGerm-Line MutationHair ColorHead and Neck NeoplasmsHumansMaleMelanomaMelanosisMiddle AgedMutationReceptor, Melanocortin, Type 1

Identifiers

PMID27403562
PMCPMC4945874
OpenAlexW2474228978

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.