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Variant Interpretation in Cancer Susceptibility Genes

Presented By: Dr Alice Garrett Speaker Biography: Alice is a Clinical Cancer Geneticist, currently working as a Locum Consultant at St George's Hospital in London. She completed her PhD in the field of genetic susceptibility to sarcoma at the Institute of Cancer Research in London, where she is now an Honorary Clinical Lecturer working closely with the Cancer Variant Interpretation Group (CanVIG-UK). Webinar: Variant Interpretation in Cancer Susceptibility Genes Webinar Abstract: 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 Earn CPD Credits: 1. Make sure you’re a registered member of Labroots (https://www.labroots.com/) 2. Watch the webinar on YouTube or on the Labroots Website (https://www.labroots.com/ms/webinar/v...) 3. Click Here to get your CPD credits (Expiration date – March 11th 2027): https://www.labroots.com/credit/cpd-c... Labroots on Social: Facebook:   / labrootsinc   Twitter:   / labroots   LinkedIn:   / labroots   Instagram:   / labrootsinc   Pinterest:   / labroots   SnapChat: labroots_inc