Síndrome de cáncer de mama/ovario hereditariodesarrollo de una guía clínica y análisis de los genes ATM, TP53 en familias de alto riesgo para cáncer de mama no asociado a BRCA1 y/o BRCA2

Zusammenfassung

Hereditary breast cancer is genetically very heterogeneous. The currently known predisposition genes explain less than 40% of the observed familial risk. The study of the major genes involved in hereditary breast cancer has been the focus of this thesis presented in the form of articles published in indexed journals. The first work is a clinical guideline on hereditary cancer of reference in Spain, in which the main aspects of the hereditary breast and ovarian cancer syndrome associated with BRCA1 and BRCA2 are discussed. The aim of the second paper of this thesis is to analyze other high penetrance genes such as TP53 and PTEN, in a cohort of BRCA1 and BRCA2 negative breast cancer patients. The third and final article of this thesis summarizes the results of a multicenter case-control association study in which ATM mutations ¿ previously identified in patients with ataxia-telangiectasia in Spanish population ¿are analyzed in women affected with breast cancer associated with no germinal mutation in BRCA1 or BRCA2.