Collaborator: University of Wisconsin – Madison

• Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

• Germline SDHA-related tumor risks: A cohort of 558 SDHA-positive patients from a single reference laboratory

  Presenting Author: Lauren Lovrien from Medical College of Wisconsin

  April 2, 2026

• The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

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

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

• Recurrent mutation N383S and rare variants in PRKCI are causal for orofacial clefting and other phenotypes

  April 2, 2026

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

• Risk of Late-Onset Breast Cancer in Genetically Predisposed Women

• 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