21-04-2027

POLE and POLD1 Proofreading Deficiency: Clinical Phenotypes, Mutational Signatures and Variant Classification

Laura Valle, PhD, is a Principal Investigator at the Catalan Institute of Oncology and IDIBELL (Barcelona, Spain). Her research focuses on the genetic basis of colorectal cancer predisposition and the clinical and molecular characterization of hereditary colorectal cancer and polyposis syndromes, with a particular interest in the role of POLE and POLD1 in cancer. She is actively involved in national and international consortia focused on variant interpretation, cancer predisposition gene discovery, clinical guidelines, and precision medicine.

In this webinar, Laura Valle will discuss the clinical features of POLE- and POLD1-associated hereditary cancer predisposition and the molecular characteristics of proofreading-deficient tumors, both hereditary and sporadic. She will also highlight recent advances in variant classification, including benchmarking of in silico predictors, the development of a calibrated functional assay to assess proofreading deficiency, and results from a multiplexed assay of variant effects (MAVE) targeting the exonuclease domains of POLE and POLD1 for high-throughput functional assessment.

Registration: https://attendee.gotowebinar.com/register/2115364073913384796