Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: TP53 Mutations, Cadherin-Catenin and Mucins Proteins Expression

摘要: Early gastric carcinomas may develop with a molecular profile differing from sporadic occurring at later age. In this study, we analyzed retrospective series of 88 patients adenocarcinoma diagnosed before the age 45 years for presence TP53 mutations, clinicopathological features and immunohistochemistry to evaluate expression markers considered be important in carcinogenesis (E-cadherin, β-catenin, MUC1, MUC2, MUC5AC, MUC6 p53). The majority proportion tumors were diffuse-type (70%) advanced stage (56%). Familial history cancer was positive 21% cases. There significant association between altered E-cadherin p53 perineural invasion. mutations detected 14.5% evaluated cases, including germline mutation (p.R337H) 12-year old patient. Overall survival analysis showed differences relation tumor histopathology. biomarkers did not present prognostic value non-exploratory multivariate analyses. low frequency suggests these alterations are major event early age, although identification case p.R337H is consistent hypothesis that small early, apparently cancer, associated widespread Brazilian founder mutations. Further studies needed significance specific groups according histology familial history.