22-5-2024

Molecular diagnosis of the BRCA2 c.156_157insAlu, a Portuguese founder pathogenic variant

Fátima Vaz is a medical oncologist. She coordinates the multidisciplinary breast, ovarian and prostate risk cancer group, and is the Director of the Medical Oncology Department at the Portuguese Institute of Oncology of Lisbon, Portugal.

Teresa Duarte is a molecular biologist from the Portuguese Institute of Oncology of Lisbon, Portugal. Her work focuses on hereditary breast, ovarian and prostate cancer syndromes.

The BRCA2 c.156_157insAlu variant is a pathogenic founder variant of the Portuguese population, accounting for approximately one-third of all BRCA2 variants in this country. This variant is associated with hereditary breast, ovarian and prostate cancers. Despite its significance, consistent detection has proven challenging. This webinar aims to address this issue by focusing on accurate identification methods, while also providing insights into its clinical implications and specific management strategies.