Hereditary Gastric Cancer Panel

Gastric cancers (GC) is the fifth most common malignancy in the world and the third leading cause of cancer death.  Most cases of gastric cancer are sporadic, occur at an old age (>65 years) and are associated with different environmental risk factors, including Helicobacter pylori infection, smoking, and a diet high in smoked and salted foods. About 1–3% of GCs can be considered hereditary due to germline pathogenic variants in cancer-predisposition genes. Gastric cancer predisposition has been linked to familial cancer syndromes, including Lynch syndrome, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis syndrome, and Cowden syndrome. Pathogenic variants in CDH1 represent the most common cause of hereditary diffuse gastric cancer syndrome. Germline pathogenic variants in KIT and PDGFRA have been reported in familial gastrointestinal stromal tumors. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.