Lynch - Mar 2021

Project title:
Finding the Missing Heritability in Lynch Syndrome: Germline Variant Analyses of Mismatch Repair Genes by Long-Read Single-molecule Real-time Sequencing

Project leader:
Dr. Richarda de Voer, Radboudumc, Nijmegen, Netherlands

Project Description:
Application of targeted long-read sequencing (TLR-seq) of the MMR genes to screen for non-coding pathogenic variants to explain the observed “missing heritability” in patients with a Lynch-like phenotype.

6 ERN GENTURIS centres participated in this study.

Start date: 31 March 2021

Duration: 1.5 years

Funder: Solve-RD (grant agreement No 779257), Stichting Sacha Swarttouw-Hijmans