Inherited Cancer Predisposition Syndromes

Hereditary breast cancer is characterized by 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. Approximately 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. Multigene testing is routine in hereditary cancer syndromes. Next generation sequencing now permits multigene panel testing, which provides clinicians with more information in a single test with improved efficiency and speed and lower cost. Also in this presentation, two diseases related to renal cancer will be discussed: Birt-Hogg-Dubé syndrome and Von-Hippel-Lindau syndrome. Genetic mechanisms, genetic counseling issues, and a testing strategy for retinoblastoma are discussed.

Originally published on January 4, 2023

Lecture Presenter

Pinar Bayrak-Toydemir, MD, PhD, FACMG Professor University of Utah School of Medicine Medical Director, Molecular Genetics and Genomics ARUP Laboratories

Dr. Bayrak-Toydemir is a professor of pathology at the University of Utah School of Medicine. She received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. Dr. Bayrak-Toydemir is board certified in medical genetics, and her research interests include inherited vascular disorders, specifically hereditary hemorrhagic telangiectasia; capillary malformation-arteriovenous malformation syndrome, lymphatic dysplasia, and aortopathies; and implementation of new technologies, such as next generation sequencing, in clinical settings.

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Objectives

After this presentation, participants will be able to:

• Discuss inherited breast and ovarian cancer syndromes, including high-risk and moderate-risk genes and related syndromes
• Describe renal cancer syndromes, including Birt-Hogg-Dubé syndrome and Von-Hippel-Lindau syndrome
• Explain genetics mechanisms of retinoblastoma
• Apply test algorithms for several cancer genes based on National Comprehensive Cancer Network (NCCN) guidelines

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories