Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers

ABSTRACT

A 67-year-old man underwent two endoscopic submucosal dissection procedures, one for gastric adenoma and one for early gastric cancer. The follow-up endoscopy showed metachronous recurrence at the anterior wall of the lower body, for which he underwent a subtotal gastrectomy. Four first- or second-degree relatives in his family have been diagnosed with gastric or colon cancers. The patient underwent counseling and genetic testing to identify single nucleotide polymorphisms and indel variants for 31 genes by next generation sequencing. Five missense mutations were identified, one each in ATM, BRIP1, and EPCAM and two in BRCA2. These genetic alterations may be candidates for genetic causes of this familial cluster of gastric cancer. This study identified genes that, for the first time, can be potentially associated with an increased risk of familial gastric cancer among the Korean population. These results may be helpful in evaluating other genetic factors related to the etiology of gastric cancer.