As the field of genetics continues to grow, so do the amounts of data that can be used in variant interpretation. As we approach a critical mass of data, it is becoming more apparent that the theory that each variant has a unique risk is, in fact, a reality. In some cases, we can discern or infer when a variant harbors characteristics that are neither like a high-penetrance pathogenic variant nor like a benign variant…rather somewhere in between. In this talk we will look at cancer predisposition genes to exemplify the concept of hypomorphic variants and how they can be identified using clinical and/or functional data.
Level of Instruction: Intermediate