Screening and surveillance of hereditary upper GI cancers

Abstract

Upper GI cancer has poor prognosis. Of all upper GI malignancies, 1–3 % have a well-defined germline genetic cause. Hereditary upper GI cancers include squamous cell carcinoma as part of Tylosis, signet ring cell carcinoma of the stomach occurring in the context of hereditary diffuse gastric cancer syndrome, gastric adenocarcinoma affecting individuals with familial adenomatous polyposis syndrome (FAP), Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch, Juvenile Polyposis and Peutz-Jeghers Syndromes, and duodenal adenocarcinoma, for which individuals with FAP and Lynch syndromes are at increased risk. This review will discuss the management of people with suspected or confirmed hereditary syndromes related to increased risk of upper GI cancers, with particular reference to indication for genetic testing, age of start of endoscopic screening, best practice in relation to endoscopic surveillance and indication for surgery.