Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status

Identifying tumor DNA mismatch repair deficiency (dMMR) is important for precision medicine. Tumor features, individually and in combination, derived from whole-exome sequenced (WES) colorectal cancers (CRCs) and panel sequenced CRCs, endometrial cancers (ECs) and sebaceous skin tumors (SSTs) were assessed for their accuracy in detecting dMMR. CRCs (n=300) with WES, where MMR status was determined by immunohistochemistry, were assessed for microsatellite instability (MSMuTect, MANTIS, MSIseq, MSISensor), COSMIC tumor mutational signatures (TMS) and somatic mutation counts.

Source: Journal of Molecular Diagnostics - November 14, 2022 Category: Pathology Authors: Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ryan A. Hutchinson, Kais Kasem, Michael D. Walsh, Finlay A. Macrae, Aung K. Win, John L. Hopper, Dm Tags: Regular Article Source Type: research