ArticleJournal of medical genetics2013
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 70 papers.
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Who cites it
70 citing papers in PubMed, 135 citations in OpenAlex.
- Establishment of Stable Immortalized Human Choroidal Melanocytes for Ocular Research.Investigative ophthalmology & visual science · 2026Article
- Recent Advances in Genetically Engineered Mouse Models of Melanoma: Insights into Tumor Initiation and Oncogenic Signaling Pathways.International journal of stem cells · 2026Review
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
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- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Liquid Biopsy for Cutaneous Melanoma: Opportunities and Challenges in Detecting and Characterizing Circulating Tumor Cells.Journal of dermato-oncology · 2025Article
- Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer.Pigment cell & melanoma research · 2025Review
- Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC).Familial cancer · 2024Review
- Review
- High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Article
- A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling.Journal of human genetics · 2023Article
- Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.Frontiers in genetics · 2023Article
- MC1R and melanin-based molecular probes for theranostic of melanoma and beyond.Acta pharmacologica Sinica · 2022Review
- New Insights into Melanoma Tumor Syndromes.JID innovations : skin science from molecules to population health · 2022Review
- Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.Bosnian journal of basic medical sciences · 2022Review
- Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.ESMO open · 2022Article
- Genodermatoses - Opportunities for Early Detection and Cancer Prevention.Current genetic medicine reports · 2022Review
- 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
- Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.Journal of clinical medicine · 2021Review
10 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
33 authors at 20 institutions in 10 countries.
Funding
Abstract
backgroundCDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. Melanoma families with CDKN2A germline mutations have been extensively characterised, whereas CDK4 families are rare and lack a systematic investigation of their phenotype.
methodsAll known families with CDK4 germline mutations (n=17) were recruited for the study by contacting the authors of published papers or by requests via the Melanoma Genetics Consortium (GenoMEL). Phenotypic data related to primary melanoma and pigmentation characteristics were collected. The CDK4 exon 2 and the complete coding region of the MC1R gene were sequenced.
resultsEleven families carried the CDK4 R24H mutation whereas six families had the R24C mutation. The total number of subjects with verified melanoma was 103, with a median age at first melanoma diagnosis of 39 years. Forty-three (41.7%) subjects had developed multiple primary melanomas (MPM). A CDK4 mutation was found in 89 (including 62 melanoma cases) of 209 tested subjects. CDK4 positive family members (both melanoma cases and unaffected subjects) were more likely to have clinically atypical nevi than CDK4 negative family members (p<0.001). MPM subjects had a higher frequency of MC1R red hair colour variants compared with subjects with one tumour (p=0.010).
conclusionOur study shows that families with CDK4 germline mutations cannot be distinguished phenotypically from CDKN2A melanoma families, which are characterised by early onset of disease, increased occurrence of clinically atypical nevi, and development of MPM. In a clinical setting, the CDK4 gene should therefore always be examined when a melanoma family tests negative for CDKN2A mutation.
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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.