Collaborator: Brigham and Women’s Hospital

• SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort

• 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

• Extracting and calibrating evidence of variant pathogenicity from population biobank data

• Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast

• Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium

• Development and validation of the PREMMplus clinical prediction model for multigene hereditary cancer risk assessment.

  April 2, 2026

• Development and validation of the PREMMplus clinical prediction model for multigene hereditary cancer risk assessment

  April 2, 2026

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

  April 2, 2026

• Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

• Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment