Understanding the genomic makeup of tumors to guide personalized medicine

Cancer is a disease of the genome. The study of tumor genomic alterations is used to guide several precision medicine strategies, some approved and a large number under clinical development. On the other hand, the study of tumor immunity is recently becoming the key for the success of other personal...

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Detalles Bibliográficos
Autor: Rubio Pérez, Carlota
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/664287
Acceso en línea:http://hdl.handle.net/10803/664287
Access Level:acceso abierto
Palabra clave:Genomics
Cancer
Personalized medicine
Next-generation sequencing
Targeted therapies
Genòmica
Càncer
Medicina personalitzada
Seqûenciació de nova generació
Teràpies dirigides
575
Descripción
Sumario:Cancer is a disease of the genome. The study of tumor genomic alterations is used to guide several precision medicine strategies, some approved and a large number under clinical development. On the other hand, the study of tumor immunity is recently becoming the key for the success of other personalized strategies, named immunotherapies. Along this thesis I have made several contributions towards the advance of cancer precision medicine, based on the study of tumor “omics” data. First, I evinced the landscape of genomic-guided anti-cancer therapies. Second, I developed OncoPaD, a tool for the rational design of cost-effective cancer gene panels. Third, I contributed to the development of Cancer Genome Interpreter, a tool for the biological and therapeutic interpretation of variants found in newly sequenced tumors. Forth, I identified tumor intrinsic molecular mechanisms involved in tumor immune evasion.