Publicação: Identification of mutations potentially associated with Chemoradiotherapy Treatment response in cervical cancer
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CNPQ::CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA
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Alves, Tamires Caixeta
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Chemoradiotherapy resistance can significantly influence treatment outcomes in cervical cancer patients. Somatic variants play a crucial role in tumor development and treatment response. This study aimed to identify potentially clinically significant variants associated with chemoradiotherapy response using RNA-seq data analysis. RNA-seq data from 31 cervical cancer patients were subjected to variant calling and subsequent analysis using a machine learning decision tree algorithm. Variants within coding genes were selected based on their potential to segregate non-responder and responder patients. The selected variants were further assessed using variant impact prediction tools. We identified and investigated variants that exhibited potential to act as biomarkers for poor chemoradiotherapy response. Comprehensive analysis using variant impact prediction tools indicated that these variants may have deleterious effects on gene function. The genes harboring these variants were found to be involved in crucial cellular processes associated with cancer progression, including cell cycle regulation, proliferation, and notably, drug resistance. Our findings suggest that specific variants, namely MUC6(NM_005961.3):c.5992C>A, PABPC1(NM_002568.4):c.1255C>T, NAP1L1(NM_004537.7):c.1064_1065delinsGG, and NLRP4(NM_134444.5):c.1488_1489insT, have the potential to serve as indicators of poor chemoradiotherapy response in cervical cancer patients.
Abstract
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Cervical cancer, RNA-seq, Chemoradiotherapy, Somatic mutations, MUC6, NAP1L1, PABPC1, NLRP4
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FACCIOLO FILHO, Antonio Carlos. Identification of mutations potentially associated with Chemoradiotherapy Treatment response in cervical cancer. 2023. 42 f. Trabalho de Conclusão de Curso (Graduação em Biotecnologia) – Universidade Federal de Uberlândia, Uberlândia, 2023.
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