Non-Coding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome
Explore the latest research on Lynch syndrome and mismatch repair genes in this 29-minute webinar presented by Dr. Richarda De Voer, assistant professor at Radboud University Medical Centre. Delve into the genetic predisposition for early-onset colorectal and endometrial cancers, focusing on non-coding aberrations in mismatch repair genes. Learn about current diagnostic techniques, the role of somatic mutations, and the application of targeted long-read sequencing in identifying unexplained cases. Gain insights into functional testing methods for validating pathogenicity of non-coding aberrations. Understand the implications of this research for improving Lynch syndrome diagnosis and uncovering the missing heritability in unexplained cases.