The impact of transposable elements on the structure and function of the cancer genome

• Autores: Bernardo Rodríguez Martín
• Directores de la Tesis: Jose M. C. Tubio (dir. tes.)
• Lectura: En la Universidade de Santiago de Compostela ( España ) en 2022
• Idioma: inglés
• Tribunal Calificador de la Tesis: Xosé A. Suárez Puente (presid.), Diana Guallar Artal (secret.), Nicolas Gilbert (voc.)
• Programa de doctorado: Programa de Doctorado en Medicina Molecular por la Universidad de Santiago de Compostela
• Materias:
  • Ciencias de la vida
    • Genética
    • Biología humana
      • Genética humana
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en: MINERVA
• Resumen

  • This PhD dissertation provides further insights on the impact of retrotransposon mobilisation in the cancer genome. Through the analysis of a large cohort of 2,954 cancer whole genomes compiled by the Pan-Cancer Analysis of Whole Genomes Consortium, we have investigated the patterns of somatic activity for mobile elements across 38 different tumour types, uncovered novel mechanisms of mutation mediated by LINE-1 elements and characterised more than 100 full-length LINE-1 loci active in cancer.