Hereditary diffuse gastric cancer associated with a novel germline variant c.1596G>A in the <i>CDH1</i> gene

Abstract

Gastric cancer is one of the most common malignancies worldwide. Approximately 10 % of patients with gastric cancer are characterized by accumulation of gastric cancer cases in their family. The hereditary forms of gastric cancer account for 1–3 % of all gastric cancer cases. Hereditary diffuse GC syndrome is caused by germline mutations in CDH1 gene and determines a high risk of developing diffuse GC and lobular breast cancer. In this article, we present a clinical case of a 41-year-old patient with diffuse gastric cancer, who was found to be a carrier of novel germline mutation in the CDH1 gene. Next-generation sequencing (NGS) has facilitated an identification of CDH1 c.1596G>A genetic variant, thus enabling an accurate clinical diagnosis hereditary diffuse gastric cancer.

Keywords

• gastric cancer
• hereditary diffuse gastric cancer
• <i>cdh1</i>
• c.1596g>a variant
• genetic testing criteria