ArticleBMC cancer2019
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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.
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.
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Who cites it
25 citing papers in PubMed, 34 citations in OpenAlex.
- Skin Cancer Predisposition Genes, Full-Body Skin Examinations, Familial Disclosure, and Genetic Testing Among High-Risk Individuals.International journal of dermatology · 2026Article
- Melanoma-patient-derived xenograft multi-omics resource melPDomiX maps gain- and loss-of-function alterations.Cell reports · 2026Article
- Prospective tumour mutation burden and neoantigen profiling predicts immunotherapy response in metastatic melanoma.NPJ precision oncology · 2026Article
- Multiple primary and familial melanoma as distinct high-risk phenotypes: a retrospective cohort study.Frontiers in genetics · 2026Article
- Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.Oncology research · 2026Review
- Differences of clinical features, prognosis and genetic mutations in Chinese patients with malignant melanoma and additional primary tumours.Annals of medicine · 2025Article
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Germline variants in CDKN2A wild-type melanoma prone families.Molecular oncology · 2025Article
- Multiple Primary Melanoma Associated with CDKN2A Mutation-Case Report and Review of the Literature.Medicina (Kaunas, Lithuania) · 2024Review
- Pathology and Molecular Biology of Melanoma.Current issues in molecular biology · 2023Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Screening of potential novel candidate genes in schwannomatosis patients.Human mutation · 2022Article
- Article
- Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.ESMO open · 2022Article
- Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.Dermatopathology (Basel, Switzerland) · 2021Review
- Unraveling the role of microRNA/isomiR network in multiple primary melanoma pathogenesis.Cell death & disease · 2021Article
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
- Melanoma susceptibility: an update on genetic and epigenetic findings.International journal of molecular epidemiology and genetics · 2021Review
- Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.Frontiers in oncology · 2021Review
- P14Genes · 2020Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
Abstract
introductionMultiple primary melanomas (MPM) occur up to 8% of patients with cutaneous malignant melanoma (CMM). They are often sporadic harbouring several somatic mutations, but also familial cases harbouring a CDKN2A germline mutation have been describe in Caucasian populations. The aim of this study was to investigate the incidence, the distribution patterns and the impact of known and unknown germline and somatic mutations in patients with MPM from Italy. MATERIALS AND
methodsOne-hundred and two MPM patients were enrolled for germline mutation analysis, and five patients with at least four MPMs were identified for somatic mutation analysis. The demographic, pathologic and clinical features were retrieved from medical records. Molecular analysis for both germline and somatic mutations was performed in genomic DNA from peripheral blood and tissue samples, respectively, through a next generation sequencing approach, using a specific multiple-gene panel constructed by the Italian Melanoma Intergroup for somatic analysis and a commercial cancer hotspot panel for somatic analysis.
resultsCDKN2A mutations were detected in 6/16 (37.5%) and 3/86 (3.5%) MPM cases with and without family history for melanoma, respectively. Furthermore, multiple MC1R and, to a lesser extent, ATM variants have been identified. BAP1 variants were found only in MPM patients from southern Italy. The most frequent somatic variants were the pathogenic BRAF
conclusionsCDNK2A mutation is the most relevant susceptibility mutation in Italian patients with MPM, especially those with a family history for CMM. The prevalence of this mutation and other sequence variants identified in this study varies among specific sub-populations. Furthermore, some heterogeneity in driver somatic mutations between sporadic MPMs has been observed, as well as in a number of associated sequence variants the clinical impact of which needs to be further elucidated.
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