Detection of Breast Cancer-Related Germline Mutations with Advanced NGS Technology

As breast cancer remains the most common tumor in women worldwide, identifying relevant germline predisposing mutations is important in determining a patient’s lifetime risk of developing breast cancer and allows early detection, clinical management and treatment. Through advances in next-generation sequencing technology, Dr. Valeria D’Argenio, Federico II University and CEINGE Biotecnologie Avanzate, Italy, discusses data from six years of experience in hereditary breast cancer diagnosis using BRCA amplicon sequencing and custom panel analysis.