Name: Interpreting Genomic Variation: Inherited Cancer Susceptibility
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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.

Syllabus

Week 1
Cancer susceptibility gene variant interpretation
- Introduction to the course
  In this section, we welcome you to the course with more information about our course team and some key definitions.
- Why is variant interpretation different in Cancer Susceptibility Genes (CSGs)?
  In this section, we look at why genomic variant interpretation is different in cancer susceptibility genes when compared with rare diseases.
- Adapting the ACMG framework for CSGs
  In this section, we will explore the specialist CanVIG-UK guidance for variant interpretation.
- Population data
  In this section, we begin to look at the different types of evidence available for variant interpretation in CSGs, starting with population data.
- Computational and predictive data
  In this final section of the week, we will explore the next type of evidence which is computational and predictive data.
Week 2
Cancer susceptibility gene variant interpretation
- Introduction to Week 2
  In this section, we will introduce you to what to expect on the second week of the course.
- Functional data
  In the section, we will take a detailed look at functional data use in CSG variant interpretation.
- Allelic data
  In this section, we will examine the role of allelic data in cases of recessive disease and hear about a patients experience with genetic test.
- Reputable sources
  In this section, we review one of the advantages of cancer being a common disease - the wealth of data available from a range of reputable sources.
- Other data
  While phenotype data may be quite different to the dysmorphology considered in rare diseases, particular features of a tumour can give us a range of clues for variant interpretation.
- Other considerations
  Having reviewed the different types of evidence towards pathogenicity, in this section, we will look at what happens when classifications clash, and when we have evidence to suggest a variant is benign.
- Pulling it all together
  In this section, we find out Liz's mother's genetic test result and look at a useful resource that pulls together all of the different types of evidence available for CSG variant interpretation: CanVar-UK.
- Putting it into practice
  It's your turn to practice working through variant interpretation in a range of CSGs, including a detailed review of the variant identified in Liz's mother.
- The evolving landscape
  Cancer genomic is ever-changing - the more we learn about CSGs the more complex variant interpretation becomes. In this final section, we examining so key areas of development.

When would you like to start?

Start straight away and join a global classroom of learners. If the course hasn’t started yet you’ll see the future date listed below.

Available now

Learning on this course

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...

Assess the strengths and weaknesses of the American College of Medical Genetics (ACMG) guidelines for variant interpretation in complex disease, such as cancer, compared to rare paediatric disease
Explore the different ways in which cancer susceptibility gene variant interpretation can impact on patient care
Describe the importance of large scale collaborative infrastructure to standardise evidence based variant interpretation in cancer susceptibility genes
Apply the CanVIG-UK guidelines for variant interpretation to classify variants in cancer susceptibility genes involved in hereditary breast and ovarian cancer and Lynch Syndrome
Assess the complexities of applying cancer susceptibility gene variant interpretation in clinical practice including the implications of reduced penetrance variants and potential changes in classifications over time

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

Who will you learn with?

Katie Snape

I'm a consultant cancer geneticist at St George's University Hospitals NHS Foundation Trust. My research involved using next generation sequencing technology to identify genes associated with cancer.

Beth Coad

I'm a Genetic Counsellor and Honorary Clinical Lecturer in Cancer Genomics.

Who developed the course?

St George's, University of London

St George’s is the UK’s only university dedicated to medical and health sciences education, training and research.

CanGene CanVar

CanGene CanVar is a five-year Cancer Research UK-funded research program which develops data resources, clinical and educational tools to leverage cancer susceptibility genetic for early detection and prevention of cancer.

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