Published online Jan 16, 2018. doi: 10.12998/wjcc.v6.i1.1
Peer-review started: November 9, 2017
First decision: November 30, 2017
Revised: December 8, 2017
Accepted: December 13, 2017
Article in press: December 13, 2017
Published online: January 16, 2018
Hereditary diffuse gastric cancer (HDGC) is an inherited form of gastric cancer that carries a poor prognosis. Most HDGCs are caused by an autosomal dominant genetic mutation in the CDH1 gene, which carries a 70%-80% lifetime risk of gastric cancer. Given its submucosal origin, endoscopic surveillance is an unreliable means of early detection, and prophylactic gastrectomy is recommended for CDH1 positive individuals older than age 20 years. We describe the case of a male with recurrent gastric cancer who was diagnosed with HDGC secondary to the CDH1 mutation, and we also describe the patient’s pedigree and outcomes of recommended genetic testing.
Core tip: Individuals who carry the CDH1 gene mutation are at very high risk of acquiring hereditary diffuse gastric cancer, a cancer with a high mortality if not detected early. The clinical findings we describe in this case may aid medical practitioners in the assessment and testing of patients with a family history of gastric cancer and raise awareness about the importance of genetic testing for this condition.