Duration
2 weeksWeekly study
3 hours100% online
How it works
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.
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...
- 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
Who will you learn with?
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.
I'm a Genetic Counsellor and Honorary Clinical Lecturer in Cancer Genomics.
Recommended | |||
Ways to learn | Buy this course | Subscribe to Unlimited | Join with limited access |
---|---|---|---|
Choose the best way to learn for you! | $84 One-off payment | $27.99/month Automatically renews | Free |
Unlock your expertise | Access thousands of courses | Try this course - with limits | |
Access to this course | tick | tick | Limited to 2 weeks |
Access to ALL eligible courses | cross | tick | cross |
Learn at your own pace | tick | tick | cross |
Discuss your learning in comments | tick | tick | tick |
Certificate when you're eligible | Printed and digital | Digital only | cross |
Ways to learn
Subscribe to Unlimited to access this course and thousands of other short courses or buy just this course for extra benefits. Or, join with limited access.
Subscribe to Unlimited
$27.99/month
Automatically renews
Access thousands of courses
- Access to this course
- Access to ALL eligible short courses
- Learn at your own pace
- Discuss your learning in comments
- Digital certificate when you're eligible
Buy this course
$84
One-off payment
Unlock your expertise
- Access to this course
- Learn at your own pace
- Discuss your learning in comments
- Printed and digital certificate when you’re eligible
Join with limited access
Free
Try before you buy
- Limited access to course content for 2 weeks
Find out more about certificates, Unlimited or buying a course (Upgrades) |
Find out more about certificates, Unlimited or buying a course (Upgrades)
Learning on FutureLearn
Your learning, your rules
- Courses are split into weeks, activities, and steps to help you keep track of your learning
- Learn through a mix of bite-sized videos, long- and short-form articles, audio, and practical activities
- Stay motivated by using the Progress page to keep track of your step completion and assessment scores
Join a global classroom
- Experience the power of social learning, and get inspired by an international network of learners
- Share ideas with your peers and course educators on every step of the course
- Join the conversation by reading, @ing, liking, bookmarking, and replying to comments from others
Map your progress
- As you work through the course, use notifications and the Progress page to guide your learning
- Whenever you’re ready, mark each step as complete, you’re in control
- Complete 90% of course steps and all of the assessments to earn your certificate
Want to know more about learning on FutureLearn? Using FutureLearn
Get a taste of this course
Find out what this course is like by previewing some of the course steps before you join:
Do you know someone who'd love this course? Tell them about it...
More courses you might like
Learners who joined this course have also enjoyed these courses.
Browse more in Healthcare & Medicine