Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Abstract excerpt

Using multigene panel testing for the diagnostic evaluation of patients with hereditary breast and ovarian cancer (HBOC) syndrome often identifies clinically actionable variants in genes with varying levels of penetrance. High-penetrance genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53) inform specific clinical surveillance and therapeutic decisions, while recommendations for moderate-penetrance genes (ATM,...

Topics

• Humans
• Female
• Genetic Testing
• Adult
• Middle Aged
• Breast Neoplasms
• Genetic Predisposition to Disease
• Hereditary Breast and Ovarian Cancer Syndrome
• Aged
• Retrospective Studies