Collaborator: Mayo Clinic

• Characteristics of patients with p.V50M and p.T80A mutations associated with hereditary transthyretin amyloidosis

  April 2, 2026

• Closing the gap: Trends in inconclusive rates in hereditary cancer testing across racial/ethnic groups

  April 2, 2026

• The uniform application of protein functional data has an impressive potential to resolve VUS rates in BRCA2

  April 2, 2026

• A novel insertion/deletion in APC gene Promotor 1B is associated with both stomach and colon polyposis  

  Take home points:   A multi-clinic study following one family with clinical manifestations of both GAPPS and FAP that indicates the genotype-phenotype relationship for APC 1B promoter variants may not be fully characterized.   Pathogenic variants in the APC promoter 1B region are associated with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), which has typically been…

  April 2, 2026

• PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

• Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

• 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