ArticlePloS one2015
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- A systematic review of cancer risks associated with MITF variants.Familial cancer · 2026Pooled it
- Cancer risks associated with the germline MITF(E318K) variant.Scientific reports · 2020Pooled it
- Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.European journal of human genetics : EJHG · 2023Article
- Article
- Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.Journal of medical genetics · 2021Article
- Disease risk scores for skin cancers.Nature communications · 2021Observational
- A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.International journal of molecular sciences · 2020Article
- Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.International journal of cancer · 2019Article
- Article
- Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- The Danish Melanoma Database.Clinical epidemiology · 2016Review
- Update in genetic susceptibility in melanoma.Annals of translational medicine · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in CDK4 and BAP1, while MC1R variants were common, occurring at more than twice the frequency compared to Danish controls. The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.
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Registered trials
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.