ArticleThe British journal of dermatology2011
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
Article in The British journal of dermatology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Regulatory roles of N6-methyladenosine methylation factors in melanoma invasion and metastasis (Review).Oncology letters · 2026Review
- Sun protection behaviors, healthcare access, and smoking among melanoma survivors.Journal of cancer survivorship : research and practice · 2026Article
- Identification of immune-related ferroptosis prognostic marker and in-depth bioinformatics exploration of multi-omics mechanisms in thyroid cancer.Frontiers in molecular biosciences · 2022Article
- Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Aetiology and Pathogenesis of Cutaneous Melanoma: Current Concepts and Advances.International journal of molecular sciences · 2021Review
- A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.International journal of molecular sciences · 2020Article
- Familial Melanoma: Diagnostic and Management Implications.Dermatology practical & conceptual · 2019Article
- Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Article
- CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.Acta dermato-venereologica · 2018Article
- Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.Journal of the American Academy of Dermatology · 2016Review
- Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?Cancer biology & therapy · 2016Article
- Update in genetic susceptibility in melanoma.Annals of translational medicine · 2015Review
- Genetic epidemiology of malignant melanoma susceptibility.Melanoma management · 2015Review
- Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.Journal of the American Academy of Dermatology · 2014Article
- Melanoma: clinical features and genomic insights.Cold Spring Harbor perspectives in medicine · 2014Review
- Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): what's worse?Wiener medizinische Wochenschrift (1946) · 2014Article
- Clinical applications of melanoma genetics.Current treatment options in oncology · 2014Review
- Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.Hereditary cancer in clinical practice · 2014Article
- Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.Journal of medical genetics · 2013Article
- Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.PloS one · 2013Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe penetrance of CDKN2A mutations is subject to geographical and latitudinal variation and is presumably dictated by ultraviolet radiation exposure and possibly other co-inherited genetic factors. The frequency of mutations increases with the number of family members affected and the number of primary tumours, and also fluctuates with geography. To date, little is known about the prevalence of CDKN2A mutations in patients with melanoma from Greece.
objectiveTo characterize the frequency of CDKN2A and CDK4 mutations in a hospital-based population of Greek patients with melanoma.
methodsThree hundred and four consecutive single primary melanoma (SPM), nine familial melanoma (FM) and seven multiple primary melanoma cases (MPM) were assessed for sequence variants in exons 1α, 1β and 2 of CDKN2A and exon 2 of CDK4.
resultsGermline CDKN2A mutations were detected in 10 of 304 SPM (3·3%), in four of seven MPM (57%) and in two of nine FM (22%) cases. The most common mutation was a Northern European allele (p16 p.R24P) detected in eight individuals. Five previously unreported CDKN2A variants were also identified: -34G>C, c.41_43delins20bp, c.301G>C (p.G101R), c.301G>A (p.G101E) and c.296_297insGACC. We also describe the first report of a CDK4 p.R24H substitution in a Greek family.
conclusionsThe Greek population appears to harbour a higher prevalence of the CDKN2A mutation than other reported cohorts. This supports the notion that genetic susceptibility may play a stronger influence in a country with a relatively low incidence of melanoma. Furthermore, the identification of Northern European alleles suggests that gene migration may be responsible, in part, for the observed cases in Greece.
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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.