ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Exploring the Melanoma and Pancreatic Cancer Phenotype of a PotentialJCO precision oncology · 2026Article
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- Familial melanoma: genetic, clinical, and dermoscopic insights and follow-up.Frontiers in medicine · 2026Review
- Cutaneous melanoma.Nature reviews. Disease primers · 2025Review
- [Characteristics of melanoma in Mexicans seen at "La Raza" National Medical Center].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community.Genetics in medicine open · 2024Article
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- 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
- Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.International journal of molecular sciences · 2023Article
- The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.Frontiers in oncology · 2023Article
- Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.The British journal of dermatology · 2022Article
- Gene-Level Associations in Patients With and Without Pathogenic Germline Variants inJCO precision oncology · 2022Article
- Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas.JCO oncology practice · 2022Article
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- 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
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
- Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.Journal of the European Academy of Dermatology and Venereology : JEADV · 2021Article
- Observational
Corrections and comments
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Authors and funding
40 authors at 20 institutions in 7 countries.
Funding
Abstract
purposeCDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.
methodsCDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.
resultsOverall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.
conclusionThe inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.
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Registered trials
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