Hereditary diffuse gastric cancer.

Abstract

Gastric cancer is one of the world's leading causes of cancer mortality. A small percentage of cases can be attributed to heritable mutations in highly penetrant cancer susceptibility genes. In this chapter we will focus on the genetic cause of hereditary diffuse gastric cancer (HDGC). Until 10 years ago, individuals from these families lived with the uncertainty of developing lethal gastric cancer. Today, HDGC families can be identified, tested for causative mutations in CDH1, and for those families where a pathogenic mutation can be identified, prophylactic total gastrectomy can be implemented in asymptomatic mutation carriers who elect to virtually eliminate their risk of developing this lethal disease.