Inherited Cancer Predisposition Syndromes

Course overview

Hereditary breast cancer is defined by an onset at a young age, bilateral breast cancer, multiple primary breast cancers, and a history of first or second- degree family members with similar diagnoses. Around 15-20% of the patients from families with a history of an inherited form of breast cancer are negative for BRCA1 and BRCA2 mutations. Additional, non-BRCA, genes have been identified as predisposing for breast cancer. Multi gene testing becomes a routine diagnosis in hereditary cancer syndromes. Next generation sequencing now permits multi gene panel testing, which provides clinicians with more information in a single test with improved efficiency, speed, and cost. Additionally, during this presentation, two diseases related with renal cancer will be discussed: Birt-Hogg-Dubé syndrome and Von-Hippel-Lindau Syndrome. Genetic mechanisms, genetic counseling issues, and testing strategy for retinoblastoma is discussed. Learning Objectives: Discuss Inherited Breast and Ovarian Cancer syndromes including High Risk and Moderate Risk Genes with related syndromes, Describe renal cancer syndromes including Birt-Hogg-Dubé syndrome and Von-Hippel-Lindau Syndrome, Explain genetics mechanisms of Retinoblastoma, Apply test algorithms based on National Comprehensive Cancer Network (NCCN) Guideline for several cancer genes.