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Identification of inherited susceptibility genes for cutaneous melanoma by large scale genotyping

Grant number: 12/15880-3
Support type:Regular Research Grants
Duration: December 01, 2012 - May 31, 2015
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Carmen Silvia Passos Lima
Grantee:Carmen Silvia Passos Lima
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Assoc. researchers:Benilton de Sá Carvalho ; Gustavo Jacob Lourenço ; Maria Letícia Cintra


Cutaneous melanoma (CM) is the more important among cancers due to its high metastatic potential and absence of drug treatment response. The main risk factor for the development of MC is exposure to ultraviolet rays from sunlight. Individual differences generated by genetic polymorphisms related to processes of carcinogenesis, have important roles in the origin and clinical manifestations of disease. The genome wide association studies (GWAS) identifies several single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) of DNA. The aim of this study is identify the roles of large numbers of SNPs and CNVs in MC patients and healthy individuals of our population. Genomic DNA of the 100 CM patients and 100 controls will be evaluated in our service. The Affymetrix® Genome-Wide Human SNP Array 6.0 contains 1.8 million genetic markers, including more than 906.600 SNPs and more than 946.000 probes for the detection of CNV. The genotypes determinate by SNPs will be estimated using Genotyping Console (birdseed) and BioConductor project (crlmm). The analysis of CNVs will be evaluated using Canary (Genotyping Console) and CRLMM combined HMM with the CBS and (BioConductor). The comparison between groups will be conducted by Fisher test or chi-square and logistic regression with the programs PLINK and snpStats (BioConductor). The risks of occurrence for MC will be obtained through the odds ratios (ORs) with confidence interval of 95%. We believe that the results of this study will contribute to better understanding the pathophysiology of MC and to identify healthy individuals at high risk of tumor occurrence and special care for the prevention and early diagnosis of the same. (AU)