Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/186806
Title: Genetic approaches to improve hereditary cancer diagnosis based on next-generation sequencing data
Author: Rofes Terrón, Paula
Director/Tutor: Lázaro García, Conxi
Valle Domínguez, Jesús del
Keywords: Malalties hereditàries
Càncer
Diagnòstic molecular
Ciències de la salut
Genetic diseases
Cancer
Molecular diagnosis
Medical sciences
Issue Date: 31-Mar-2022
Publisher: Universitat de Barcelona
Abstract: [eng] he overarching aim of the present thesis project is to implement new testing strategies and develop new tools that will contribute to improve the genetic diagnosis of hereditary cancer, with the ultimate goal of individualizing the risk estimations of patients and their families in order to personalize prevention, follow-up, treatment and prophylactic recommendations. This study has been mainly focused on the two most prevalent HC syndromes: hereditary breast and ovarian cancer and hereditary colorectal cancer, although data on other less prevalent cancer syndromes are also presented. Specific aims 1. To elucidate the role of new candidate cancer-predisposing genes and to devise new genotype-phenotype correlations. 2. To improve the classification of VUS. 3. To increase the mutation detection rate of the studied genes, following two different approaches: 3.1. Implementation of somatic testing in unsolved hereditary cancer patients with two goals: to assess the prevalence of mosaicism and to evaluate the frequency of double somatic hits among Lynch-like syndrome patients. 3.2. Implementation of new testing strategies complementary to DNA-based sequencing to address mutational discovery in previously unexplored regions.
URI: http://hdl.handle.net/2445/186806
Appears in Collections:Tesis Doctorals - Facultat - Medicina i Ciències de la Salut

Files in This Item:
File Description SizeFormat 
PRT_PhD_THESIS.pdf23.76 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.