Collaborator: Boston University

• Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

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

• Roughly half of patients presenting with ataxia and/or spasticity receive a definitive diagnosis with diagnostic exome sequencing (DES)

  April 2, 2026

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

• Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

• Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast

• Breast cancer polygenic risk scores in the clinical cancer genetic counseling setting: Current practices and impact on patient management

• Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty

  Abstract The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single‐gene to multi‐gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list‐serv to complete an online survey assessing current practices and perspectives…

• A collaborative view of genomic variant interpretation: Clinical genetic counselors, laboratories, and patients

  April 2, 2026