Evidence map›Paper›PMID 27236105›Full record

ReviewThe Journal of investigative dermatology2016

RASopathy Gene Mutations in Melanoma.

Ruth Halaban, Michael Krauthammer

Abstract readReview
In one paragraph

Review in The Journal of investigative dermatology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

17 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Targeted Therapy in Melanoma and Mechanisms of Resistance.International journal of molecular sciences · 2020
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Reclassification of theCold Spring Harbor molecular case studies · 2018
    Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. The NF1 gene in tumor syndromes and melanoma.Laboratory investigation; a journal of technical methods and pathology · 2017
    Review
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

2 authors at 1 institution in 1 country.

Ruth HalabanDepartment of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: ruth.halaban@yale.edu.
Michael KrauthammerDepartment of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Program in Computational Biology and Bioinformatics, Yale University School of Medicine, New Haven, Connecticut, USA.
Yale University · US

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 RUTH HALABAN · 2006 to 2026
$43.9M
NCATS NIH HHS UL1 TR001863NCI NIH HHS P50 CA121974
6 · The paper itself

Abstract

Next-generation sequencing of melanomas has unraveled critical driver genes and genomic abnormalities, mostly defined as occurring at high frequency. In addition, less abundant mutations are present that link melanoma to a set of disorders, commonly called RASopathies. These disorders, which include neurofibromatosis and Noonan and Legius syndromes, harbor germline mutations in various RAS/mitogen-activated protein kinase signaling pathway genes. We highlight shared amino acid substitutions between this set of RASopathy mutations and those observed in large-scale melanoma sequencing data, uncovering a significant overlap. We review the evidence that these mutations activate the RAS/mitogen-activated protein kinase pathway in melanoma and are involved in melanomagenesis. Furthermore, we discuss the observations that two or more RASopathy mutations often co-occur in melanoma and may act synergistically on activating the pathway.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationHumansMAP Kinase Signaling SystemMelanomaMutationras ProteinsSensitivity and SpecificitySignal TransductionSkin Neoplasmsras Proteins

Identifiers

PMID27236105
PMCPMC4992636
OpenAlexW2399524638

What OpenQuestion holds

Textmetadata
LicenceTDM
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.