Collaborator: University of British Columbia

• When clinical meets molecular: Why, when and how do CTNNA1 germline variants cause hereditary diffuse gastric cancer development

  April 2, 2026

• Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• Genetics of gastric cancer: what do we know about the genetic risks?

  Abstract An appreciable number of patients with gastric cancer have an underlying hereditary cancer susceptibility syndrome as the cause of their gastric cancer, particularly those with early onset gastric cancer or a family history of gastric or other cancers. Pathogenic germline variants in specific genes account for the known gastric cancer predisposition syndromes. Germline genetic…