Variação do número de cópias gênicas em glioblastoma multiforme

• Ano de defesa: 2008
• Autor(a) principal: Freire, Pablo Riera
• Orientador(a): Vasconcelos, Ana Tereza Ribeiro
• Banca de defesa: Oliveira, Jauvane Cavalcante de , Camargo, Anamaria Aranha
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Laboratório Nacional de Computação Científica
• Programa de Pós-Graduação: Programa de Pós-Graduação em Modelagem Computacional
• Departamento: Serviço de Análise e Apoio a Formação de Recursos Humanos
• País: BR
• Palavras-chave em Português: Câncer; Entropia (Teoria da informação); Computação gráfica
• Palavras-chave em Inglês: Cancer; Entropy (Information theory); Computer graphics
• Área do conhecimento CNPq: CNPQ::CIENCIAS DA SAUDE::MEDICINA::CLINICA MEDICA::CANCEROLOGIA
• Link de acesso: https://tede.lncc.br/handle/tede/88

Cancer is a disease originated from mutations in the genome. One of the main types of mutations is the copy number variation, which is defined when a certain region of the genome has a copy number different than two. This variation may alter gene expression and modulate tumor progression. Recent experimental platforms allow the measure of copy number in a genomic scale, however, these aberrations encompass oncogenes and tumor suppressor together with genes that are not related to cancer. The use of set of experiments from several patients is normally used as a solution for this problem, however, this approach lacks adequate mathematical methods for indentifying biologically important regions. In this dissertation, a new method for finding aberrant regions in a set of copy number experiments is presented, using the entropy as a measure for biological aberration, and outperforming other methods with similar propose. Moreover, a graphical tool was developed to visualization and analysis of the data. The new methodology was applied in 167 copy number experiments from glioblastoma multiforme samples generated by The Cancer Genome Atlas project, one of the biggest projects on cancer research. As a result, 31 aberrant regions were found, being 8 of these regions previously known in glioblastoma multiforme, carrying the genes: EGFR , MDM2, MDM4, CDK4, PTEN, PDGFRA, CDKN2A and CHD5. Other oncogenes and tumor suppressors that are important in other types of cancer were also found as well as genes without previously described relation with cancer.