Collaborator: Yale University School of Medicine

• Exploring the yield of RASopathy variants in individuals with presumed nonsyndromic hypertrophic cardiomyopathy

  Presenting Author: Michelle Malizio, MS, CGC from MGH Institute of Health Professions

  April 2, 2026

• Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers

• Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

• Estimating sensitivity of the International Gastric Cancer Linkage Consortium’s (IGCLC) 2020 Hereditary Diffuse Gastric Cancer (HDGC) genetic testing criteria.

  April 2, 2026

• Barriers to hormone therapy following prophylactic bilateral salpingo-oophorectomy in BRCA1/2 mutation carriers

• Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants

• Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

  Abstract Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical criteria. Methods Patients were all consecutively identified CDH1 pathogenic variant carriers from a clinical laboratory…

• Phenotypic Expression of CDH1 Germline Mutations Unselected for Hereditary Diffuse Gastric Cancer

  April 2, 2026