Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype. The Cancer Variant Interpretation Group UK (CanVIG-UK) represents NHS diagnostic laboratories and clinical genetics services across the UK and Republic of Ireland, working to try and support improved accuracy and consistency in the clinical interpretation of variants in cancer susceptibility genes. This webinar will discuss some of the approaches considered by CanVIG-UK to issues in variant interpretation that are particularly pertinent to cancer susceptibility genes, such as the interpretation of variants of reduced penetrance, variant reclassification and the use of case-control data.

Learning Objectives:

• To compare variant interpretation in cancer susceptibility genes to other contexts
• To consider possible approaches to the interpretation of reduced penetrance variants in high penetrance cancer susceptibility genes
• To highlight some of the broader challenges in clinical variant interpretation, such as variant reclassification