ArticleAsian Pacific journal of cancer prevention : APJCP2021
Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.
Article in Asian Pacific journal of cancer prevention : APJCP, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveMalignant melanoma is a highly lethal melanocytic neoplasia with different predisposing factors. The genetic background in familial cases is an important issue in finding at risk family members. CDKN2A is one of these predisposing genes which have been estimated to be involved in germ line mutation in approximately 5-10% of familial melanoma cases. MATERIALS AND
methodsAn inclusion criteria for familial melanoma was prepared according to the literature, and the age of onset was considered as a single criteria for selection. A total number of 322 melanoma cases were investigated regarding the criteria, among which 20 patients were chosen (<40 years). DNA was extracted from Formalin Fixed Paraffin Embed of normal tissues and DNA sequencing was performed for all coding sequences of CDKN2A (p16).
resultsOne of the cases showed a pathogenic mutation in codon 108, exon 2(322G >C; Asp108His). Further analysis of his offspring indicated no mutation in the next generation.
conclusionAs far as the authors of the present study are concerned, this was the first report on this germ-line mutation with mentioned amino acid alteration in the melanoma. Screening the CDKN2A gene for possible mutation could prevent the incidence of familial cases in at risk members.<br />.
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