Collaborator: Institute of Molecular Pathology and Immunology, University of Porto

• CTNNA1 germline variants associate with a disease spectrum extending beyond Hereditary Diffuse Gastric Cancer

  Ambry Authors: Carolyn Horton, Rachid Karam Abstract # TBD

  April 2, 2026

• 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…

• Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

  Abstract Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results’ interpretation, and created consensus guidelines regarding genetic counselling,…