DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

• Published in: BioMed research international Vol. 2015; no. 2015; pp. 1 - 8
• Main Authors: Carraro, Dirce M., Krepischi, Ana C. V., Rosenberg, Carla, Campos, Antonio H. J. F. M., Achatz, Maria I., Maria-Engler, Silvya Stuchi, Pennacchi, Paula C., Kashiwabara, André Y., Pramio, Dimitrius T., de Araújo, Érica S. S., Duprat, João P.
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2015; John Wiley & Sons, Inc; Hindawi Limited
• Subjects: CpG Islands - genetics; DNA methylation; DNA Methylation - genetics; DNA sequencing; Epigenesis, Genetic; Family medical history; Female; Genes; Genetic aspects; Genome, Human; Humans; Male; Melanoma; Melanoma - genetics; Melanoma - pathology; Methods; Methylation; Mutation; Nucleotide sequencing; Observations; Promoter Regions, Genetic; Risk Factors; Skin cancer; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Studies
• ISSN: 2314-6133; 2314-6141
• DOI: 10.1155/2015/376423

In melanoma development, oncogenic process is mediated by genetic and epigenetic mutations, and few studies have so far explored the role of DNA methylation either as predisposition factor or biomarker. We tested patient samples for germline CDKN2A methylation status and found no evidence of inactivation by promoter hypermethylation. We have also investigated the association of clinical characteristics of samples with the DNA methylation pattern of twelve genes relevant for melanomagenesis. Five genes (BAP1, MGMT, MITF, PALB2, and POT1) presented statistical association between blood DNA methylation levels and either CDKN2A-mutation status, number of lesions, or Breslow thickness. In tumors, five genes (KIT, MGMT, MITF, TERT, and TNF) exhibited methylation levels significantly different between tumor groups including acral compared to nonacral melanomas and matched primary lesions and metastases. Our data pinpoint that the methylation level of eight melanoma-associated genes could potentially represent markers for this disease both in peripheral blood and in tumor samples.