Whole exome sequencing of 501 gastric cancer patients

A small proportion of gastric cancer (GC) cases have a monogenic etiology, where penetrant mutations in single genes are disease-causing. Next to CDH1, the established disease gene for hereditary diffuse gastric cancer, there was a significant enrichment of loss of function mutations in ATM suggesting that ATM should be considered for genetic testing when a monogenic GC form is suspected.