There are both technical and logistical limitations that hinder the identification of individuals at-risk for hereditary cancer, resulting in many patients who undergo DNA genetic testing going undiagnosed. In this webinar we will review splicing data obtained from a cohort of 43,000 individuals tested for cancer predisposition and demonstrate how RNA sequencing improves the diagnostic yield of genetic testing. Specifically, splicing profile performed in this large clinical cohort led to the detection of novel cryptic alterations in tumor suppressor genes of patients who otherwise would have a negative or inconclusive result.
Level of Instruction: Intermediate