Genetic testing by cancer site: stomach.

摘要: Gastric cancer is a global public health concern, ranking as the fourth leading cause of mortality, with 5-year survival only 20%. Approximately 10% gastric cancers appear to have familial predisposition, and about half these can be attributed hereditary germline mutations. We review genetic syndromes current standards for counseling, testing, medical management screening treatment cancer. Recently, mutations in E-cadherin/CDH1 gene been identified families an autosomal dominant inherited predisposition diffuse type. The cumulative lifetime risk developing CDH1 mutation carriers up 80%, women from also increased lobular breast Prophylactic gastrectomies are recommended unaffected carriers, because endoscopic examinations blind biopsies proven inadequate surveillance. In addition this syndrome, elevated Lynch syndrome associated DNA mismatch repair genes microsatellite instability, ovarian due BRCA1 BRCA2 mutations, adenomatous polyposis caused by APC Li-Fraumeni p53 Peutz-Jeghers STK11 juvenile SMAD4 BMPR1A genes. Guidelines individuals suggested. A raised awareness among physician counseling communities regarding may allow detection prevention high-risk individuals.