Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

ConclusionWe show that low ‐level mosaicism can be detected by using high‐coverage targeted NGS panels on constitutional and/or tumor DNA. This report illustrates that by using sensitive sequencing techniques, more cases of genetic diseases driven by mosaic mutations may be identified, with important clinical consequences for patients and family members.

Source: Molecular Genetics & Genomic Medicine - May 17, 2019 Category: Genetics & Stem Cells Authors: Willemina R. Geurts ‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker Tags: CLINICAL REPORT Source Type: research