Collaborator: BC Cancer

• Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls

• Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing

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

• 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…