Evidence map›Paper›PMID 36098958›Full record

ArticleCancer discovery2022

Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.

Felicity Newell, Peter A Johansson, James S Wilmott, Katia Nones, Vanessa Lakis, Antonia L Pritchard, Serigne N Lo, Robert V Rawson, Stephen H Kazakoff, Andrew J Colebatch and 25 more

Open access · hybridAbstract read
In one paragraph

Article in Cancer discovery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 1 pooled it
26.9field-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

70 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

10 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 Newell *QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-0469-2705
Peter A Johansson *QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-7015-5452
James S WilmottMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-6750-5244
Katia NonesQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-1925-5196
Vanessa LakisQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-5025-8120
Antonia L PritchardQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-5336-0454
Serigne N LoMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0001-5092-5544
Robert V RawsonMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-0655-4963
Stephen H KazakoffQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-6562-1383
Andrew J ColebatchMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-7610-3984
Lambros T KoufariotisQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-4917-1375
Peter M FergusonMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-8335-0406
Scott WoodQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-4543-8850
Conrad LeonardQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-4131-2065
Matthew H LawQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-4303-8821
Kelly M BrooksQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-9751-5961
Natasa BroitQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-8490-5437
Jane M PalmerQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-2702-522X
Kasey L CoutsCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado.ORCID 0000-0002-2088-2229
Ismael A VergaraMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-2960-2967
Georgina V LongMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0001-8894-3545
Andrew P BarbourDiamantina Institute, The University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0002-0991-7662
Omgo E NiewegMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-2997-6413
Brindha ShivalingamMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-4354-4537
William A RobinsonCenter for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado.ORCID 0000-0003-1875-9691
Jonathan R StretchMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-2556-2005
Andrew J SpillaneMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-8354-434X
Robyn P M SawMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-3354-806X
Kerwin F ShannonMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0001-8538-3132
John F ThompsonMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-2816-2496
Graham J MannMelanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-1301-405X
John V PearsonQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-0904-4598
Richard A Scolyer *Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-8991-0013
Nicola Waddell *QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-3950-2476
Nicholas K Hayward *QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-4760-1033
The University of Sydney · AUQIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUUniversity of Colorado Cancer Center · USAustralian National University · AUQueensland Health · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Melanoma is a cancer of melanocytes, with multiple subtypes based on body site location. Cutaneous melanoma is associated with skin exposed to ultraviolet radiation; uveal melanoma occurs in the eyes; mucosal melanoma occurs in internal mucous membranes; and acral melanoma occurs on the palms, soles, and nail beds. Here, we present the largest whole-genome sequencing study of melanoma to date, with 570 tumors profiled, as well as methylation and RNA sequencing for subsets of tumors. Uveal melanoma is genomically distinct from other melanoma subtypes, harboring the lowest tumor mutation burden and with significantly mutated genes in the G-protein signaling pathway. Most cutaneous, acral, and mucosal melanomas share alterations in components of the MAPK, PI3K, p53, p16, and telomere pathways. However, the mechanism by which these pathways are activated or inactivated varies between melanoma subtypes. Additionally, we identify potential novel germline predisposition genes for some of the less common melanoma subtypes. SIGNIFICANCE: This is the largest whole-genome analysis of melanoma to date, comprehensively comparing the genomics of the four major melanoma subtypes. This study highlights both similarities and differences between the subtypes, providing insights into the etiology and biology of melanoma. This article is highlighted in the In This Issue feature, p. 2711.

Indexed as

MelanomaSkin NeoplasmsCutaneous Malignant MelanomaGenomicsHumansMutationUltraviolet RaysUveal Melanoma

Identifiers

PMID36098958
PMCPMC9716259
OpenAlexW4295430444

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.