Evidence map›Paper›PMID 30905807›Full record

ArticleThe Journal of investigative dermatology2019

Exome Sequencing of ABCB5 Identifies Recurrent Melanoma Mutations that Result in Increased Proliferative and Invasive Capacities.

Géraldine Sana, James P Madigan, Jared J Gartner, Marie Fourrez, Jimmy Lin, Nouar Qutob, Jitendra Narayan, Suneet Shukla, Suresh V Ambudkar, Di Xia and 4 more

Open access · greenAbstract read
In one paragraph

Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Valproic Acid as a Histone Deacetylase Inhibitor InducesCurrent issues in molecular biology · 2025
    Article
  3. Article
  4. Review
  5. Article
  6. Article
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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

14 authors at 5 institutions in 3 countries.

Géraldine SanaLaboratory of Molecular Cancer Biology, Molecular Physiology Research Unit (URPHYM), Namur Research Institute for Life Sciences, Faculty of Medicine, Department of Biomedical Sciences, University of Namur, Namur, Belgium.
James P MadiganLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Jared J GartnerCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Marie FourrezLaboratory of Molecular Cancer Biology, Molecular Physiology Research Unit (URPHYM), Namur Research Institute for Life Sciences, Faculty of Medicine, Department of Biomedical Sciences, University of Namur, Namur, Belgium.
Jimmy LinWashington University School of Medicine, Genome Technology Access Center, Genomics and Pathology Services, St. Louis, Missouri, USA.
Nouar QutobDepartment of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
Jitendra NarayanLaboratory of Evolutionary Genetics and Ecology (LEGE), Faculty of Sciences, Department of Biology, University of Namur, Namur, Belgium.
Suneet ShuklaLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Suresh V AmbudkarLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Di XiaLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Steven A RosenbergSurgery Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Michael M GottesmanLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. Electronic address: mgottesman@nih.gov.
Yardena SamuelsCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
Jean-Pierre GilletLaboratory of Molecular Cancer Biology, Molecular Physiology Research Unit (URPHYM), Namur Research Institute for Life Sciences, Faculty of Medicine, Department of Biomedical Sciences, University of Namur, Namur, Belgium. Electronic address: jean-pierre.gillet@unamur.be.
National Institutes of Health · USUniversity of Namur · BENational Cancer Institute · USWeizmann Institute of Science · ILWashington University in St. Louis · US

Funding

Gene therapy of cancerZIABC010985 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI ROSENBERG, STEVEN · 2009 to 2025
$56.8M
Yale SPORE in Skin CancerP50CA121974 · NCI · YALE UNIVERSITY · PI DAVID F STERN · 2006 to 2026
$43.9M
Adoptive Cell Transfer Immunotherapy of CancerZ01BC010984 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI ROSENBERG, STEVEN · 2008 to 2008
$1.5M
Intramural NIH HHS Z01 BC010984NCI NIH HHS P50 CA121974
6 · The paper itself

Abstract

ABCB5 is an ABC transporter that was shown to confer low-level multidrug resistance in cancer. In this study, we show that ABCB5 was mutated in 13.75% of the 640 melanoma samples analyzed. Besides nonsense mutations, two mutation hotspots were found in the ABCB5 protein, in the drug-binding pocket and the nucleotide-binding domains. Four mutations, which are representative of the mutation pattern, were selected. ATPase assays showed that these mutations resulted in a decrease in basal ATP hydrolysis by ABCB5. To select informative melanoma cell lines, mutational profiles of the clinical samples were further analyzed. This study showed mutations in the tumor suppressor CDKN2A gene and the NRAS oncogene in 62.5% and 75%, respectively of the samples that had mutations in the ABCB5 gene. No mutation was found in the tumor suppressor PTEN gene, whereas the activating V600E mutation in the BRAF oncogene was found in 25% of the samples with a mutated ABCB5 gene. Studies in four melanoma cell lines with various genetic backgrounds showed an increase in the proliferation and migration capacity of mutant ABCB5-expressing cells, suggesting that ABCB5 plays a role in the development of melanoma as a tumor suppressor gene.

Indexed as

Genes, Tumor SuppressorAdenosine TriphosphateAdultATP Binding Cassette Transporter, Subfamily BCell Line, TumorCell MovementCell ProliferationCyclin-Dependent Kinase Inhibitor p16DNA Mutational AnalysisExome SequencingFemaleGTP PhosphohydrolasesHumansHydrolysisMaleMelanomaABCB5 protein, humanAdenosine TriphosphateATP Binding Cassette Transporter, Subfamily BCDKN2A protein, humanCyclin-Dependent Kinase Inhibitor p16GTP PhosphohydrolasesMembrane ProteinsNRAS protein, human

Identifiers

PMID30905807
PMCPMC6708748
OpenAlexW2924961473

What OpenQuestion 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 OpenQuestion graph.