Inherited susceptibility to biliary tract and ampullary cancers.
Germline pathogenic mutations/likely pathogenic variants are detected in at least 14.5% of patients with biliary tract cancer and 20.8% of patients with ampullary cancers referred for multi-gene panel testing.
The spectrum of germline mutations among these patients spans a range of cancer predisposition genes, many of which overlap with pancreatic cancer susceptibility.
Authors: Holly LaDuca; Mary Helen Black; Virginia Speare; Fergus J. Couch