Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing

Current molecular tumor diagnostics encompass panel sequencing to detect mutations, copy number alterations, and rearrangements. However, tumor suppressor genes can also be inactivated by methylation within their promoter region. These epigenetic alterations are so far rarely assessed in the clinical setting. Therefore, we established the AllCap protocol facilitating the combined detection of mutations and DNA methylation at the coding and promoter regions of 342 DNA repair genes in one experiment.

Source: Journal of Molecular Diagnostics - December 18, 2018 Category: Pathology Authors: Christina Grimm, Axel Fischer, Angela M. Farrelly, Roshni Kalachand, Roberta Castiglione, Elena Wasserburger, Michelle Hussong, Anne M. Schultheis, Janine Altm üller, Holger Thiele, Hans C. Reinhardt, Kai Hauschulz, Bryan T. Hennessy, Ralf Herwig, Matthi Tags: Technical advance Source Type: research