RT info:eu-repo/semantics/doctoralThesis
T1 Regulación del splicing alternativo  y aberrante en genes de reparación  del ADN y susceptibilidad  hereditaria a cáncer de  mama/ovario
A1 Linares Burguet, Inés
A2 Universidad de Valladolid. Escuela de Doctorado
K1 Cáncer
K1 Breast cancer
K1 Cáncer de mama
K1 Hybrid minigenes
K1 Minigenes híbridos
K1 Aberrant splicing
K1 Splicing aberrante
K1 2302.04 Genética Bioquímica
AB Breast cancer is the most commonly diagnosed malignancy and the leading cause of cancer-related mortality among women worldwide. Approximately 5¿10% of cases have a hereditary origin, associated with germline loss-of-function variants in eight major susceptibility genes: ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D. The use of high-throughput sequencing techniques to identify deleterious variants in these genes has markedly increased the detection of variants of uncertain clinical significance (VUS). Many of these variants can disrupt the splicing process, a predominant etiopathogenic mechanism in hereditary cancer. In this context, functional splicing assays are essential to assess the pathogenic potential of such variants, supporting the reclassification of VUS. The objectives of this thesis are: (1) functional and clinical interpretation of splice-site variants identified in the ATM gene; (2) regulation of alternatively spliced and atypical exons in ATM and TP53, and the impact of genetic variation; and (3) investigation of non-canonical splicing.
YR 2025
FD 2025
LK https://uvadoc.uva.es/handle/10324/80830
UL https://uvadoc.uva.es/handle/10324/80830
LA spa
NO Escuela de Doctorado
DS UVaDOC
RD 12-ene-2026