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Interpreting Genomic Variation: Inherited Cancer Susceptibility
Explore germline variation in cancer susceptibility genes
Germline genomic variation can increase the risk of developing cancer. It’s essential to use the best evidence available to decide if a genomic variant is likely to increase the chance of a person developing cancer. This allows us to offer at-risk individuals access to appropriate screening, prevention, and personalised treatments.
Learn how to interpret genes for susceptibility to cancer
On this course, you will consider how variant interpretation in cancer susceptibility genes has different considerations when compared with variant interpretation in rare paediatric disease.
You’ll explore the guidelines produced by the UK Cancer Variant Interpretation Group (CanVIG-UK) for variant interpretation and how these can be applied to the American College of Medical Genetics (ACMG) framework in the classification of germline variants in cancer susceptibility genes.
Study the CanVIG-UK guidelines in theory and practice
This course will provide you with patient examples to explore the complexities of variant interpretation in cancer genomics. You’ll also hear from experts in the field about how the CanVIG-UK guidance was created.
You’ll be encouraged to apply your learning through case-based exercises that illustrate both the strengths and weaknesses of the tools and guidelines available for cancer variant interpretation.
Study with world-leading genomic experts at St George’s
Learn from Professor Kate Tatton-Brown and Dr Katie Snape – renowned consultant Clinical Geneticists leading on variant interpretation for rare disease and cancer.
This course is part of a series with Interpreting Genomic Variation: Fundamental Principles.
Learning on this course
You can take this self-guided course and learn at your own pace. On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.
What will you achieve?
By the end of the course, you‘ll be able to...
- Evaluate the variant interpretation tools (such as population databases, in silico tools, phenotype) and their application to the interpretation of cancer susceptibility genes.
- Apply the American College of Medical Genetics (ACMG) framework to inherited cancer susceptibility and evaluate how the framework differs in the interpretation of severe paediatric disease and cancer susceptibility.
- Compare constitutional and somatic genetic mechanisms of disease and their role in the development of rare disease and cancer.
- Identify tumour specific mutational signatures and their role in the management of cancers.
Who is the course for?
This course would be suitable for:
• Clinical Genetics doctors (consultant and specialist registrars) • Clinical Scientists • Genetic Counsellors • Clinical Oncology doctors (consultants and specialist registrars) • Pathologists undertaking cancer MDTs • Specialist oncology nurses undertaking genetic testing
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