Evidence map›Paper›PMID 36219477›Full record

ArticleThe Journal of pathology2023

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

Sofia Birkeälv, Mark Harland, Larissa Satiko Alcantara Sekimoto Matsuyama, Mamun Rashid, Ishan Mehta, Jonathan P Laye, Kerstin Haase, Tracey Mell, Vivek Iyer, Carla Daniela Robles-Espinoza and 8 more

Open access · hybridAbstract read
In one paragraph

Article in The Journal of pathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Functional characterization of the 9q34.13 locus identifiesbioRxiv : the preprint server for biology · 2026
    Article
  5. Omics in Cutaneous Melanoma.Asian Pacific journal of cancer prevention : APJCP · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Braf-Mutant Melanomas: Biology and Therapy.Current oncology (Toronto, Ont.) · 2024
    Review
  11. Article
  12. Article
  13. Observational
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

18 authors at 6 institutions in 5 countries.

Sofia BirkeälvWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Mark HarlandDivision of Haematology and Immunology, University of Leeds School of Medicine, Leeds, UK.
Larissa Satiko Alcantara Sekimoto MatsuyamaWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Mamun RashidWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Ishan MehtaWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Jonathan P LayeDivision of Haematology and Immunology, University of Leeds School of Medicine, Leeds, UK.
Kerstin HaaseThe Francis Crick Institute, London, UK.
Tracey MellDivision of Haematology and Immunology, University of Leeds School of Medicine, Leeds, UK.
Vivek IyerWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Carla Daniela Robles-EspinozaWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Ultan McDermottWellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.
Peter van LooThe Francis Crick Institute, London, UK.
Marieke L KuijjerCentre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, Faculty of Medicine, University of Oslo, Oslo, Norway.
Patricia A PossikDivision of Experimental and Translational Research, Brazilian National Cancer Institute, Rio de Janeiro, Brazil.ORCID 0000-0003-2899-0969
Silvya Stuchi Maria EnglerDepartment of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, Brazil.
D Timothy BishopDivision of Haematology and Immunology, University of Leeds School of Medicine, Leeds, UK.
Julia Newton-Bishop *Division of Haematology and Immunology, University of Leeds School of Medicine, Leeds, UK.
David J Adams *Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.ORCID 0000-0001-9490-0306
Wellcome Sanger Institute · GBUniversity of Leeds · GBThe Francis Crick Institute · GBUniversidade de São Paulo · BRHospital do Câncer III · BRUniversity of Oslo · NO

Funding

Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Cancer Research UK C588/A10721Cancer Research UK C588/A19167Cancer Research UK C8216/A6129Cancer Research UK FC001202European Research Council 319661Medical Research Council FC001202Medical Research Council MR/V000292/1NCI NIH HHS R01 CA083115NIH HHS CA83115Wellcome Trust FC001202
6 · The paper itself

Abstract

Melanoma is a heterogenous malignancy with an unpredictable clinical course. Most patients who present in the clinic are diagnosed with primary melanoma, yet large-scale sequencing efforts have focused primarily on metastatic disease. In this study we sequence-profiled 524 American Joint Committee on Cancer Stage I-III primary tumours. Our analysis of these data reveals recurrent driver mutations, mutually exclusive genetic interactions, where two genes were never or rarely co-mutated, and an absence of co-occurring genetic events. Further, we intersected copy number calls from our primary melanoma data with whole-genome CRISPR screening data to identify the transcription factor interferon regulatory factor 4 (IRF4) as a melanoma-associated dependency. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Indexed as

MelanomaGenomeGenomicsHumansMutationUnited KingdomCRISPR screeningdriver genesgene essentialitygenetic epistasisgenome sequencinggenomic landscapeinterferon regulatory factor 4 (IRF4)melanomaprimary cancersomatic mutation

Identifiers

PMID36219477
PMCPMC10098817
OpenAlexW4304203405

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.