Introduction to Week 2

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