Evidence map›Paper›PMID 33067454›Full record

ArticleNature communications2020

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Felicity Newell, James S Wilmott, Peter A Johansson, Katia Nones, Venkateswar Addala, Pamela Mukhopadhyay, Natasa Broit, Carol M Amato, Robert Van Gulick, Stephen H Kazakoff and 25 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06952400 (T1622 The Registry Study of Genetic Alterations of Melanoma in Taiwan), which is not on this map. Cited by 102 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed, 4 pooled it
9.0field-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.

NCT06952400 recruitingnot on this mapstarted 2022, after this paper: background citation

T1622 The Registry Study of Genetic Alterations of Melanoma in Taiwan

TypeobservationalSponsorNational Health Research Institutes, TaiwanRan2022 to 2030Enrolled250ConditionsPrimary Melanoma of the Extremity
3 · Its place in the literature

Who cites it

102 citing papers in PubMed, 4 syntheses or guidelines pooled it, 170 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. How telomere attrition protects against cancer.Nature reviews. Genetics · 2026
    Review
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  13. Article
  14. Article
  15. Article
  16. Article
  17. Gene fusions in melanocytic lesions: an updated comprehensive review.Journal of pathology and translational medicine · 2026
    Article
  18. SPP1Cell death & disease · 2026
    Article
  19. Review
  20. Article

42 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

35 authors at 6 institutions in 3 countries.

Felicity NewellQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. felicity.newell@qimrberghofer.edu.au.ORCID 0000-0003-0469-2705
James S WilmottMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Peter A JohanssonQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Katia NonesQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Venkateswar AddalaQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-3569-2065
Pamela MukhopadhyayQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Natasa BroitQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-8490-5437
Carol M AmatoCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.ORCID 0000-0002-4945-8819
Robert Van GulickCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
Stephen H KazakoffQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-6562-1383
Ann-Marie PatchQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-6121-4019
Lambros T KoufariotisQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Vanessa LakisQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Conrad LeonardQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-4131-2065
Scott WoodQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4543-8850
Oliver HolmesQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Qinying XuQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Karl LewisCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
Theresa MedinaCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
Rene GonzalezCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
Robyn P M SawMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0002-3354-806X
Andrew J SpillaneMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0002-8354-434X
Jonathan R StretchMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Robert V RawsonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Peter M FergusonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Tristan J DoddsMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
John F ThompsonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0002-2816-2496
Georgina V LongMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0001-8894-3545
Mitchell P LevesqueDermatology Clinic, University Hospital Zürich, University of Zurich, Zurich, Switzerland.
William A RobinsonCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
John V PearsonQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Graham J MannMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Richard A ScolyerMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0002-8991-0013
Nicola WaddellQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-3950-2476
Nicholas K HaywardQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4760-1033
QIMR Berghofer Medical Research Institute · AUThe University of Sydney · AUUniversity of Colorado Cancer Center · USThe University of Queensland · AUAustralian National University · AUUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report that mutational signature analysis reveals a subset of tumors, mostly subungual, with an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1. Mutations and amplification of KIT are also common. Structural rearrangement and copy number signatures show that whole genome duplication, aneuploidy and complex rearrangements are common. Complex rearrangements occur recurrently and are associated with amplification of TERT, CDK4, MDM2, CCND1, PAK1 and GAB2, indicating potential therapeutic options.

Indexed as

FemaleGene AmplificationGene DosageGenomicsGTP PhosphohydrolasesHumansMaleMelanomaMembrane GlycoproteinsMembrane ProteinsMutationOxidoreductasesProto-Oncogene Proteins B-rafReceptor, Notch2Skin NeoplasmsWhole Genome SequencingBRAF protein, humanGTP PhosphohydrolasesMembrane GlycoproteinsMembrane ProteinsNOTCH2 protein, humanNRAS protein, humanOxidoreductasesProto-Oncogene Proteins B-rafReceptor, Notch2TYRP1 protein, human

Identifiers

PMID33067454
PMCPMC7567804
OpenAlexW3092852290

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.