Cristina Fortuno
Dr | Research Officer
Cristina.fortuno@qimrberghofer.edu.au
CAREER HISTORY
Dr Cristina Fortuno holds a Master of Science in Biotechnology from the Polytechnic University of Valencia, Spain. She then was granted a scholarship from her university which allowed her to undertake an internship for one year at the The Cliniques Universitaires Saint-Luc, Belgium, where she gained experience in the area of female fertility preservation. After this experience, she moved back to Spain to undertake a Master’s Degree in Reproductive biology, a time in which she started working as a Research Assistant at Igenomix, a well-renowned reproductive genetics company. Motivated by the field of clinical genetics and with the wish of growing as a scientist, she moved to Australia in 2016 thanks to a scholarship from the University of Queensland to pursue her PhD in Human Genetics which she completed in 2020 under the supervision of Prof Amanda Spurdle. After this productive period in which she published seven first-author research papers, she continued working as a Research Officer in the same laboratory.
Dr Fortuno is strongly motivated about undertaking research with implications in the clinical practice for the benefit of patients and the health industry.
ORCID NUMBER
CURRENT AREA OF RESEARCH
The research of Dr Cristina Fortuno focuses on the clinical interpretation of inherited variants in cancer genes, and developing and applying comprehensive strategies to differentiate between disease-causing (pathogenic) and benign genetic variants. She has an expertise and special interest in TP53, a gene associated with high risk of cancers, specifically early-onset breast cancer and rare childhood cancers. She co-led the development of the first official TP53 variant classification guidelines in collaboration with expert members from across the globe (ClinGen TP53 Variant Curation Expert Panel). In addition to germline variant classification, she is also interested in the analysis of correlations between genotype and phenotype and estimation of specific cancer risk to optimise medical management of hereditary cancer patients.
RESEARCH HIGHLIGHTS
- ‘Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants’: This is the resulting work, in collaboration with the ClinGen TP53 Expert Panel, for the development of TP53-specific ACMG/AMP guidelines, expected to be the global gold standard for TP53 germline variant classification
- ‘Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines’: This work represents a novel analysis investigating the breast tumour pathology associated with TP53 and its application for germline variant classification
- ‘A quantitative model to predict pathogenicity of missense variants in the TP53 gene’: This is the first published quantitative model for the interpretation of TP53 germline variants
- ‘Improved ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants’: This work led to the selection of a high-performance combination of bioinformatics tools to be used as standard strategy for p53 missense variant prediction of pathogenicity within the ACMG/AMP guidelines
PROFESSIONAL MEMBERSHIPS
2020 – Present: Human Genetics Society of Australasia
2019 – Present: ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles)
2017 – Present: ClinGen (Curating the Clinical Genome) TP53 Variant Curation Expert Panel
EDUCATIONAL BACKGROUND
2016 – 2020: – PhD in Human Genetics, University of Queensland
2013 – 2015: – Master’s Degree in Biotechnology of Assisted Human Reproduction, University of Valencia, Spain
2008 – 2013: – Master of Science in Biotechnology, Polytechnic University of Valencia, Spain