Improving the overall diagnostic rate of early gastric cancer by managing family members with hereditary cancer syndromes

The 5-year survival rate of early gastric cancer (EGC) is significantly higher compared with that of advanced gastric cancer; however, the general diagnostic rate of EGC remains low in certain regions. The discovery of novel methods for diagnosing EGC will be beneficial for the general population. Among all gastric cancers, ~90% are sporadic, 10% are characterized as familial aggregation, and 3–5% of gastric cancer is attributed to genetic predisposition. Compared with sporadic cancer types, hereditary cancer syndromes (HCS) are usually characterized by the development of cancer at an early age. The present study proposes an approach for promoting the diagnostic rate of EGC in the general population by managing individuals with a family history of HCS and germline mutations of susceptibility genes. The proposed management strategy has three steps: i) Establish family history archives of the general population to screen families with individuals who have HCS; ii) recommend genetic testing for the individuals among the selected families to screen for high-risk EGC, (i.e., with HCS family history and genetic mutations); and iii) perform active routine surveillance for selected individuals to improve the overall diagnostic rate of EGC in the general population. Individuals with a positive family history should undergo the process presented above early in life, while those with a negative history may undergo routine inspection when necessary. With advances in the medical field and reductions in the cost of genetic testing, the diagnostic rate of EGC may be improved.