I obtained my University Degree in Chemistry (B.Sc.) in 1993 at the University Autonomous of Madrid, Spain (Biochemistry and Molecular Biology branch). Then, I started my PhD training at the Center of Molecular Biology Severo Ochoa (CBM-SO) where I obtained my PhD degree in 1997 presenting my thesis project entitle “Molecular characterization of the human GHF-1/Pit-1 gene promoter”. As part of my PhD project, from June until November 1996, I performed a short-term stay in the laboratory of Prof. E Hooghe-Peters, head of the Pharmacology Department at the Medical School, Free University of Brussels. Advancing in my scientific training, from March until December 2000, I started a project as Post-doctoral Research Fellow at the laboratory of Dr P. Devilee, in Leiden, focusing on the development of BRCA1 and BRCA2 mutation screening strategies. After that, I continued as postdoc in the Molecular Oncology Laboratory at the Academic Hospital San Carlos, Madrid, Spain, started in 1998. This represented an important shift in my scientific career, since I assumed translational duties being involved in the molecular diagnosis of oncological patients. Since then, I am specialized in BRCA genetic testing, having performed the test in over 3000 families (> 8000 relatives), and co-authored more than 120 scientific articles in the field of genetic susceptibility to breast, ovarian and colorectal cancers. I participated in scientific committees for the NIH such as “ClinVar Hereditary Breast Ovarian and Pancreatic Cancer Variant Curation Expert Panel” and the “ClinVar BRCA1 and BRCA2 expert panel” as well as in the “Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA consortium) Steering Committee” from the USA. Additionally, I have also been part of the “Global Alliance-BRCA challenge Interpretation Group Member” in the UK. Currently, I am particularly interested in the impact that alternative splicing might have in the clinical classification of genetic variants in breast and ovarian cancer susceptibility genes.