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.

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

• Cancer susceptibility gene variant interpretation
• Introduction to the course
• Why is variant interpretation different in Cancer Susceptibility Genes (CSGs)?
• Adapting the ACMG framework for CSGs
• Population data
• Computational and predictive data
• Cancer susceptibility gene variant interpretation
• Introduction to Week 2
• Functional data
• Allelic data
• Reputable sources
• Other data
• Other considerations
• Pulling it all together
• Putting it into practice
• The evolving landscape