Gastric cancer (GC) is a global public health concern, ranking as the fourth leading cause of cancer mortality, with a 5-year survival of only 20%. Approximately 10% of gastric cancers appear to have a familial predisposition, and about half of these can be attributed to hereditary germline mutations. Germline mutations in the E-cadherin (CDH1) gene have been identified in families with an autosomal dominant inherited predisposition to hereditary diffuse gastric cancer (HDGC). Germline mutations in KIT and PDGFRA have been reported in familial gastrointestinal stromal tumors (GIST). GC risk is also elevated in Lynch syndrome, hereditary breast and ovarian cancer syndrome (HBOC), familial adenomatous polyposis (FAP), Li-Fraumeni syndrome (LFS), Peutz-Jeghers syndrome (PJS), and juvenile polyposis syndrome (JPS). Given the very poor prognosis for most gastric cancer patients once diagnosed, every effort should be made to identify lesions early when they are still curable. Genetic testing for gastric cancer susceptibility allows for identification of families with elevated risk for this and other tumors and development of rational surveillance strategies for early detection.
Our Hereditary Gastric Cancer Panel includes sequencing and deletion/duplication analysis of the following 20 genes: CDH1, MSH2, STK11, CTNNA1, MSH6, PTEN, KIT, PMS2, SDHB, PDGFRA, EPCAM, SDHC, BRCA1, APC, TP53, BRCA2, SMAD4, MAP3K6, MLH1, BMPR1A.
Any gene in the Hereditary Gastric Cancer Panel can also be ordered individually. Please contact us directly for cost and CPT code information.