January 2022
Inherited Gastrointestinal Cancers: Identification, Management, and the Role of Genetic Evaluation and Testing
Fay Kastrinos Editor
Genetic evaluation and testing for familial risk of gastrointestinal cancers have rapidly evolved over recent decades. Advancements in DNA-sequencing technologies have allowed for more consistent use of tumor testing to determine therapeutic selection and germline testing to assess for the inherited risk of cancer. Traditionally, the decision to pursue germline genetic testing involved a detailed review of personal and family cancer history and the use of clinical criteria that relied heavily on cancer burden and young ages of cancer diagnoses in families. When clinical criteria were met, subsequent phenotype-driven genetic testing was pursued, where only one or a small number of genes were tested. However, the decreasing costs of next-generation sequencing technologies and the widespread use of multigene panel testing have led to improved accessibility and increased uptake of germline testing, across all cancer types. This approach to genetic evaluation also extends beyond the patient with cancer to individuals with family but no personal cancer history, who can benefit from intensive screening and risk-reducing strategies for cancer prevention.
