The impact of transposable elements on the structure and function of the cancer genome
- Rodríguez Martín, Bernardo
- Jose M. C. Tubio Director
Defence university: Universidade de Santiago de Compostela
Fecha de defensa: 30 May 2022
- Xosé A. Suárez Puente Chair
- Diana Guallar Artal Secretary
- Nicolas Gilbert Committee member
Type: Thesis
Abstract
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.