Collaborator: Fox Chase Cancer Center

• Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: A case report

• Discrepant tumor test results in individuals with Lynch syndrome identified by Next-Generation sequencing panels

  April 2, 2026

• Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer

• Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

• Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer

• TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy

• The R659Q and K618A MLH1 variants (of uncertain significance and benign independently) are pathogenic when inherited in cis

  MLH1 p.R659Q and p.K618A are independently classified as VUS and VLP These variants, in cis, segregate with disease in a family with a clinical diagnosis of Lynch syndrome Other phenotypic data and Bayesian analysis suggest this haplotype may be pathogenic If this combination of variants is proven to be pathogenic, it represents a new possibility…

  April 2, 2026

• Reducing Unnecessary Screening in Lynch-Like Syndrome with Tumor Sequencing

  A simulated case based survey assessed the use of tumor sequencing data in making recommendations for colon and endometrial cancer screening/prevention in suspected Lynch syndrome. Providers often recommend increased screening procedures based on the detection of mismatch repair deficiency by IHC staining, even when no germline MMR mutation has been identified. Knowledge of biallelic somatic…

  April 2, 2026