{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T19:30:00Z","timestamp":1770579000001,"version":"3.49.0"},"reference-count":56,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Melanoma is the most lethal skin cancer, and its incidence has increased worldwide. About 10% of cases are classified as hereditary melanoma (HM). <jats:italic>CDKN2A<\/jats:italic> and <jats:italic>CDK4<\/jats:italic> are the major high\u2010risk genes. Families are also more prone to develop pancreatic cancer, and different forms of oncological surveillance are recommended.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Describe the prevalence of <jats:italic>CDKN2A\/CDK4<\/jats:italic> germline mutations in melanoma\u2010prone patients and their phenotypic and histopathological features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 69 patients meeting the clinical criteria for HM were included in this cross\u2010sectional descriptive study. Amplification by PCR and genomic sequencing were used. The variants were classified according to American College of Medical Genetics (ACMG) criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age at first diagnosis of melanoma was 44.8\u2009years (SD\u2009\u00b1\u200917.83). Most patients had phototype II (44.9%), more than 50 melanocytic nevi (76.8%), atypical nevus syndrome (72.5%), history of sunburn (76.8%), and multiple primary melanomas without a family history of this tumor (74.3%). Two hundred melanomas were observed. Most tumors had a Breslow index \u22641.0\u2009mm (84.5%), location in the trunk (60.5%), and superficial spreading histological subtype (22.5%). Four variants were found in <jats:italic>CDKN2A<\/jats:italic> exons in seven patients (c.305C&gt;A, c.26T&gt;A, c.361G&gt;A e c.442G&gt;A), two variants in the 5\u2032UTR region in five patients (c.\u201025C&gt;T and c.\u201033G&gt;C), and two variants in the 3\u2032UTR region in 21 patients (c.*29C&gt;G and c.*69C&gt;T). One likely pathogenic variant (c.305C&gt;A) was identified in one patient (1.4%). No variant was found in <jats:italic>CDK4<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The prevalence of <jats:italic>CDKN2A<\/jats:italic> mutations was 1.4% in Brazilian patients meeting clinical criteria for HM.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.16742","type":"journal-article","created":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T04:45:01Z","timestamp":1686890701000},"page":"1060-1066","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>CDKN2A\/CDK4<\/i> status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross\u2010sectional descriptive trial"],"prefix":"10.1111","volume":"62","author":[{"given":"Joyce R. M. 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