Evidence map›Paper›PMID 27123489›Full record

ArticleNeurology. Genetics2016

Parkinson disease (PARK) genes are somatically mutated in cutaneous melanoma.

Rivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
1.9field-weighted citation impact, top 13% 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

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.

  1. Pooled it
  2. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.Movement disorders : official journal of the Movement Disorder Society · 2023
    Pooled it
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  10. Linking Parkinson's Disease and Melanoma: Interplay Between α-Synuclein and Pmel17 Amyloid Formation.Movement disorders : official journal of the Movement Disorder Society · 2021
    Review
  11. Review
  12. Skin conditions in early Parkinson's disease.Parkinsonism & related disorders · 2021
    Observational
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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

8 authors at 3 institutions in 1 country.

Rivka InzelbergDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Yardena SamuelsDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Esther AziziDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Nouar QutobDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Lilah InzelbergDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Eytan DomanyDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Edna SchechtmanDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Eitan FriedmanDepartment of Neurology (R.I.), Department of Dermatology (E.A.), Sackler Faculty of Medicine, Tel Aviv University; Center of Advanced Technologies in Rehabilitation (R.I.), Sheba Medical Center, Tel Hashomer; Department of Molecular Cell Biology (Y.S., N.Q.), Weizmann Institute of Science, Rehovot; The Sagol School of Neuroscience (L.I.), Tel Aviv University; Department of Physics of Complex Systems (E.D.), Weizmann Institute of Science, Rehovot; Department of Industrial Engineering and Management (E.S.), Ben Gurion University of the Negev, Beer Sheva; The Susanne Levy Gertner Oncogenetics Unit (E.F.), Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer; and the Sackler Faculty of Medicine (E.F.), Tel Aviv University, Israel.
Tel Aviv University · ILSheba Medical Center · ILWeizmann Institute of Science · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo assess whether Parkinson disease (PD) genes are somatically mutated in cutaneous melanoma (CM) tissue, because CM occurs in patients with PD at higher rates than in the general population and PD is more common than expected in CM cohorts.

methodsWe cross-referenced somatic mutations in metastatic CM detected by whole-exome sequencing with the 15 known PD (PARK) genes. We computed the empirical distribution of the sum of mutations in each gene (Smut) and of the number of tissue samples in which a given gene was mutated at least once (SSampl) for each of the analyzable genes, determined the 90th and 95th percentiles of the empirical distributions of these sums, and verified the location of PARK genes in these distributions. Identical analyses were applied to adenocarcinoma of lung (ADENOCA-LUNG) and squamous cell carcinoma of lung (SQUAMCA-LUNG). We also analyzed the distribution of the number of mutated PARK genes in CM samples vs the 2 lung cancers.

resultsSomatic CM mutation analysis (n = 246) detected 315,914 mutations in 18,758 genes. Somatic CM mutations were found in 14 of 15 PARK genes. Forty-eight percent of CM samples carried ≥1 PARK mutation and 25% carried multiple PARK mutations. PARK8 mutations occurred above the 95th percentile of the empirical distribution for SMut and SSampl. Significantly more CM samples harbored multiple PARK gene mutations compared with SQUAMCA-LUNG (p = 0.0026) and with ADENOCA-LUNG (p < 0.0001).

conclusionsThe overrepresentation of somatic PARK mutations in CM suggests shared dysregulated pathways for CM and PD.

Identifiers

PMID27123489
PMCPMC4832432
OpenAlexW2337271114

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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.