Molecular and Genetic Medicine

Department of Molecular Diagnosis, Medical University of Vienna, 1090 Vienna, Austria

Publications

• Mini Review   
  Patients with Lynch-like Syndrome have Pathogenic Germline Variants Found by Whole-Exome Sequencing
  Author(s): Christina Grimm*
  
  Lynch-like Syndrome (LLS) is a condition characterized by Colorectal Cancer (CRC) with features similar to Lynch Syndrome (LS), yet lacking identifiable pathogenic germline variants in mismatch repair (MMR) genes. This study investigates the presence of pathogenic germline variants in patients with LLS using Whole-Exome Sequencing (WES). We analyzed WES data from 100 LLS patients, focusing on MMR genes and other cancer-related genes. Pathogenic variants were identified and validated, revealing significant findings that expand our understanding of the genetic basis of LLS. Our results demonstrate that a substantial proportion of LLS patients harbor pathogenic variants not detected by conventional testing, highlighting the utility of WES in the genetic evaluation of these patients... Read More»
  DOI: 10.37421/1747-0862.2024.18.665

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