Understanding Pathogenic Mutations BRCA1/2: Interpretation and Classification

BRCA1/2 pathogenic mutations significantly increase the risk of developing breast cancer at a younger age and with a higher grade, especially within the female population. This study focuses on patients with BRCA1/2 pathogenic mutations in order to: 1) identify the main risk factors for developing cancer at a younger age; 2) determine the key risk factors for the development of higher-grade breast cancers; and 3) classify genetic sequences, obtained through genetic testing, as either pathogenic or benign using interpretable deep learning models.