Low Frequency of Germline TERT and MITF Mutations in Brazilian Melanoma- Prone PatientsPramio DT1, Aguiar T1, Araujo ESSD1, Moredo LF2, Sá BCSD2, Achatz MIW3, Duprat JP2, Rosenberg C4, Carraro MD1 and Krepischi ACV1,4*
- *Corresponding Author:
- Krepischi ACV
Institute of Biosciences, University of São Paulo
Department of Genetics and Evolutionary Biology
Rua do Matão, São Paulo,Brazil
E-mail: [email protected]
Received date: August 4, 2014; Accepted date: August 29, 2014; Published date September 01, 2014 19, 2012
Citation: Pramio DT, Aguiar T, Araujo ESSD, Moredo LF, Sá BCSD, et al. (2014) Low Frequency of Germline TERT and MITF Mutations in Brazilian Melanoma-Prone Patients. Hereditary Genet 3:135. doi: 10.4172/2161-1041.1000135
Copyright: © Pramio DT, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are credited.
Recent studies have reported rare germline mutations affecting the MITF gene, and the promoter of the TERT gene in melanoma families. Here we looked at the prevalence of these rare penetrant mutations in a series of 48 patients (either familial melanoma or multiple melanomas), all of them negative for CDKN2A and CDK4 mutations. A single mutation was detected in a multiple melanoma patient, who was a heterozygous carrier of the E318K MITF variant. However, this variant was also detected in 1 out of 125 controls. This preliminary data points to a low frequency of MITF and TERT mutations in this Brazilian group of melanoma-prone patients.