Evidence map›Paper›PMID 33050356›Full record

ArticleBiomedicines2020

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Lenka Stolarova, Sandra Jelinkova, Radka Storchova, Eva Machackova, Petra Zemankova, Michal Vocka, Ondrej Kodet, Jan Kral, Marta Cerna, Zuzana Volkova and 8 more

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 24% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Systematic review on gene-sun exposure interactions in skin cancer.Molecular genetics & genomic medicine · 2023
    Pooled it
  2. Article
  3. Pediatric Spitzoid Melanoma: A Case Report.Acta medica academica · 2025
    Article
  4. Article
  5. NovelInternational journal of molecular sciences · 2024
    Article
  6. Article
  7. Importance of Germline and Somatic Alterations in HumanInternational journal of molecular sciences · 2023
    Review
  8. Cancers · 2023
    Article
  9. Next-generation sequencing in dermatology.Frontiers in medicine · 2023
    Review
  10. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.European journal of human genetics : EJHG · 2022
    Review
  11. Melanoma susceptibility: an update on genetic and epigenetic findings.International journal of molecular epidemiology and genetics · 2021
    Review
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 3 institutions in 1 country.

Lenka StolarovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Sandra JelinkovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Radka StorchovaLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, 142 20 Prague, Czech Republic.
Eva MachackovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, 656 53 Brno, Czech Republic.
Petra ZemankovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Michal VockaDepartment of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Ondrej KodetDepartment of Dermatology and Venereology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Jan KralInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Marta CernaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Zuzana VolkovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Marketa JanatovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Jana SoukupovaInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Viktor StraneckyResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 00 Prague, Czech Republic.
Pavel DundrDepartment of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, 656 53 Brno, Czech Republic.
Libor MacurekLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, 142 20 Prague, Czech Republic.
Petra KleiblovaInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.
Zdenek KleiblInstitute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Charles University · CZCzech Academy of Sciences · CZMasaryk Memorial Cancer Institute · CZ

Funding

Akademie Věd České Republiky Strategie AV21, QualitasGrantová Agentura, Univerzita Karlova PROGRES Q28/LF1Grantová Agentura, Univerzita Karlova SVV 260516Ministerstvo Zdravotnictví Ceské Republiky NV16-30954AMinisterstvo Zdravotnictví Ceské Republiky NV18-03-00024Ministerstvo Zdravotnictví Ceské Republiky NV19-03-00279Operational Programme Research, Development and Education CZ.02.1.01/0.0/0.0/18_046/0015515Technology Agency of the Czech Republic LM2018132
6 · The paper itself

Abstract

Cutaneous melanoma is the deadliest skin malignity with a rising prevalence worldwide. Patients carrying germline mutations in melanoma-susceptibility genes face an increased risk of melanoma and other cancers. To assess the spectrum of germline variants, we analyzed 264 Czech melanoma patients indicated for testing due to early melanoma (at <25 years) or the presence of multiple primary melanoma/melanoma and other cancer in their personal and/or family history. All patients were analyzed by panel next-generation sequencing targeting 217 genes in four groups: high-to-moderate melanoma risk genes, low melanoma risk genes, cancer syndrome genes, and other genes with an uncertain melanoma risk. Population frequencies were assessed in 1479 population-matched controls. Selected

Indexed as

familial melanomagermline mutationshereditary cancer predispositionmelanomaNGSpanel sequencing

Identifiers

PMID33050356
PMCPMC7601281
OpenAlexW3092393199

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.