Gabby Torretto (Pathology & Molecular Medicine) – Assessing BRCA1 Genetic Variants involved in Hereditary Breast and Ovarian Cancer

Between 5-10% of breast and 20-25% of ovarian cancers are inherited. The majority of hereditary breast and ovarian cancer cases are caused by deleterious mutations (variants) in the BRCA1 and BRCA2 genes, which normally prevent cancer through protecting and repairing our DNA. Genetic testing is used to identify pathogenic BRCA carriers who would subsequently benefit from personalized screening, preventative and management plans. However, its widespread implementation has resulted in a significant increase in findings of variants of uncertain significance (VUS) – DNA sequence variants with uncertain effects on disease risk. VUSs pose a critical clinical challenge as they limit clinicians’ ability to effectively interpret genetic test results. For upcoming interviews check out the Grad Chat webpage on Queen’s University School of Graduate Studies & Postdoctoral Affairs website.