Collaborator: Ohio State University (OSU)

• Prevalence of Mutations in Adenomatous Polyposis and Colorectal Cancer-Associated Genes in Patients with Multiple Colon Polyps Stratified by Age.

  •Older patients have a lower likelihood of a mutation in genes that cause adenomatous polyposis (APC, MUTYH, POLE, POLD1, and biallelic MMR mutations (CMMRD)), regardless of the number of polyps that they have. •Patients with low to moderate polyposis have relatively high mutation frequencies regardless of age in genes associated with increased risk for colorectal…

  April 2, 2026

• Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

  Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly…

• Concordance of Multi-Gene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses.

  Nearly 25% of MSI and/or IHC results were discordant with germline MMR gene testing results. The vast majority of these had abnormal MSI/IHC with no germline mutation identified. These results may help guide clinicians on what to expect from multigene panel testing in patients with a particular MSI/IHC results and suggest scenarios when somatic mismatch…

  April 2, 2026

• Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

  Types and frequencies of Lynch syndrome mutations identified through multigene panel testing The mutation types and most frequently seen mutations in this multi-gene panel testing cohort support previous Lynch syndrome literature. While most previous studies suggest that mutations in MLH1 and MSH2 are the most common causes of LS, MSH6 and PMS2 were most common…

  April 2, 2026

• The PTEN promoter to be or not to be included on Multigene panel tests?

  The PTEN promoter to be or not to be included on Multigene panel tests?

  April 2, 2026