Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) – not so infrequent disease

Lenka Foretova is a medical geneticist. Since 1999 she is heading the Department of Cancer Epidemiology and Genetics at Masaryk Memorial Cancer Institute in Brno, the Czech Republic.

GAPPS syndrome with a high risk of gastric carcinoma is considered a very rare disease, variant of FAP. Since 2017, we have discovered 14 families with 30 carriers of mutation in promotor 1B of the APC gene, which is the cause of massive polyposis of the stomach with a high variability of clinical symptoms and age of occurrence. We performed 12 preventive gastrectomies to prevent cancer. This accumulation of families is seen in Southern Moravia, the eastern part of Czech Republic. The genetic testing of GAPPS within NGS panel, the disclosure of this syndrome and early preventive care by specialists is very important.