Heritable Gastrointestinal Cancer Syndromes

Although almost all gastrointestinal cancers develop from sporadic genomic events, approximately 5% arise from germline mutations in genes associated with cancer predisposition. The number of these genes continues to increase. Tumor phenotypes and family history provide the framework for identifying at-risk individuals. The diagnosis of a hereditary cancer syndrome has implications for management of patients and their families. Systematic approaches that integrate family history and molecular characterization of tumors and polyps facilitate identification of individuals with this genetic predisposition. This article summarizes diagnosis and management of hereditary cancer syndromes associated with gastrointestinal cancers.

Key points

•

Although almost all gastrointestinal cancers develop as a consequence of sporadic genomic events, approximately 5% arise in the setting of germline mutations in genes known to be associated with cancer predisposition.
•

The number of genes associated with heritable cancer syndromes continues to increase, and tumor phenotypes, along with family history, provide the framework for identifying individuals at risk.
•

Making the diagnosis of a hereditary cancer syndrome has implications for management of patients with gastrointestinal neoplasia and for their family members.
•

Systematic approaches that integrate family history and molecular characterization of tumors and polyps can facilitate identification of individuals with genetic predisposition to gastrointestinal cancer.