Hereditary diffuse gastric cancer syndrome: medical genetic consulting, treatment strategy for family members, prophylactic total gastrectomy, and endoscopic surveillance in CDH1- and CTNNA1-mutation carriers

Abstract

The purpose of the study was to summarize available data on genetic counseling for people with hereditary diffuse gastric cancer (HDGC) syndrome, treatment strategies for family members with HDGC, prophylactic gastrectomy (PGE), and surveillance of CDH1 and CTNNA1 mutation carriers. Material and methods. A literature search was conducted using Web of Science, Scopus, MedLine, Cochrane Library, and RSCI databases. Results. HDGC syndrome is an inherited genetic syndrome that leads to the increased risk for both diffuse gastric cancer (DGC) and lobular breast cancer (LBC). About 1 to 3% of all gastric cancer cases are HDGCs. A high frequency of CDH1 gene mutation was frst identifed by P. Guilford et al. in 1998 in 3 Maori families from New Zealand. The cumulative risk for HDGC in CDH1 mutation carriers is 42 to 70% for men and 33-56% for women at the age of 80 years. Due to the rarity of the disease, the main publications dealing with this problem are clinical case descriptions. Conclusion. Multicenter clinical trials are required to improve screening and management of HDGC syndrome.