ArticleJournal of the American Academy of Dermatology2014
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.
Article in Journal of the American Academy of Dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Exploring the Melanoma and Pancreatic Cancer Phenotype of a PotentialJCO precision oncology · 2026Article
- Review
- Digital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results.Molecular biology reports · 2026Article
- Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.NPJ precision oncology · 2025Article
- Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.Pigment cell & melanoma research · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.Breast cancer research and treatment · 2025Article
- Melatonin/Sericin Wound Healing Patches: Implications for Melanoma Therapy.International journal of molecular sciences · 2024Review
- 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
- Association of multiple primary melanomas with malignancy risk: A population-based analysis of entries from the Surveillance, Epidemiology, and End Results program database during 1973-2014.Journal of the American Academy of Dermatology · 2023Article
- Gene-Level Associations in Patients With and Without Pathogenic Germline Variants inJCO precision oncology · 2022Article
- Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.JNCI cancer spectrum · 2022Article
- Current understanding of epigenetics role in melanoma treatment and resistance.Cancer cell international · 2022Review
- Molecular Alterations in Malignant Pleural Mesothelioma: A Hope for Effective Treatment by Targeting YAP.Targeted oncology · 2022Review
- Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2022Article
- Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.HGG advances · 2022Article
- Cuproptosis-related gene index: A predictor for pancreatic cancer prognosis, immunotherapy efficacy, and chemosensitivity.Frontiers in immunology · 2022Article
- 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
- Unraveling the Wide Spectrum of Melanoma Biomarkers.Diagnostics (Basel, Switzerland) · 2021Review
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
backgroundCyclin-dependent kinase inhibitor 2A (CDKN2A) is the major high-risk susceptibility gene for melanoma.
objectiveWe sought to evaluate the effect of CDKN2A mutations in Spanish patients with a high risk of developing melanoma and the association with clinical and family history features.
methodsA cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high risk of developing melanoma.
resultsThe CDKN2A mutation prevalence was 8.5% in patients with sporadic multiple primary melanoma and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas, and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (prevalence ratio [PR] 2.99, P=.012) and prevalence of pancreatic (PR 2.97, P=.006), lung (PR 3.04, P<.001), and breast (PR 2.19, P=.018) cancers but not nephrourologic or colon cancer. LIMITATIONS: Smoking status was not assessed in the individuals with lung cancer.
conclusionsMelanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic, and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers.
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