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Introduction to Week 2

video of beth introducing week two of the course
Hello, everyone, welcome to week two of the course. In this week, we’re going to build on what we started to learn in week one of the course, looking in more detail at both the ACMG guidance and the CanVIG-UK specifications. We’re going to look at a few key areas of evidence for cancer susceptibility gene variant interpretation, including both allelic data and functional data. From there, we’re going to move on to look at some reputable sources for variant interpretation and cancer genes, as well as highlighting a few helpful websites in the process. After that, we’re going to look at other types of information that can be used as evidence for cancer susceptibility gene variant interpretation, including the tumour phenotype.
Once we’ve looked at all of these different areas, we’re going to pull all of that together and work through some case examples. One of the examples we’re going to work through will come from finding out the results of the genetic testing carried out in Liz’s mother, who we met in the first half of this course. We will then also find out a bit about what Liz and Thor’s reaction might be depending on how the outcome of that variant interpretation goes. And finally, once you’ve had a chance to work through a few case examples, we’re going to take a look to the future.
In particular, focusing on the evidence points system and looking at what might happen when patients get varying classifications that will change over time. Good luck, we hope you enjoy.

In this second week, we will continue to look at the different types of evidence used in the classification of cancer susceptibility genes. This will include a further detailed look at the CanVIG-UK guidelines including the areas of:

  • Functional data
  • Allelic data
  • Phenotype data
  • Reputable sources

We will then pull together all of these areas, as well as our work in week 1 to run through some worked case examples. This will include finding out the results of the genetic testing in Liz’s mothers stored sample and considering the current data available to interpret the variant that was identified.

We will also look at some of the additional complexities of cancer susceptibility gene variant interpretation, including what happens when different types of evidence clash, how we apply an evidence points system, and the potential impact of variant classification changing over time.

By the end of this week you will be able to:

  • Evaluate the role of functional data, allelic data, phenotype data and reputable sources in cancer susceptibility gene variant interpretation
  • 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
  • Critically appraise the complexities of applying cancer susceptibility gene variant interpretation in clinical practice including the implications of clashing evidence, the evidence points system and potential changes in classifications over time
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Interpreting Genomic Variation: Inherited Cancer Susceptibility

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