MSI phenotype and MMR alterations in familial and sporadic gastric cancer.

作者: Marina Leite , Giovanni Corso , Sónia Sousa , Fernanda Milanezi , Luís P. Afonso

DOI: 10.1002/IJC.25495

关键词: Cancer researchPhenotypeMLH1PathologyStomach cancerDNA methylationMicrosatellite instabilityCancerMedicineAge of onsetEpigenetics

摘要: Microsatellite instability (MSI) is a major pathway involved in gastric carcinogenesis occurring 20% of cancer (GC). However, it not clear whether MSI phenotype preferentially occurs the sporadic or familial GC, when stringent inclusion criteria are used. The aim this study was to compare frequency and hypermethylation MLH1 promoter large series GC patients (non-HNPCC non-CDH1-related) cases. Additionally, we analysed immunoexpression MMR proteins fraction Overall, 7.1%, hereditary tumours 4.6%. frequencies were statistical different between settings. Further, associated with any clinico-pathological features studied setting, whereas older age, female gender intestinal histotype. Using our Amsterdam-based clinical select (number cases, age onset), verified that cases differed but shared histopathological features. We similar settings, demonstrating molecular hallmark contrast what HNPCC. Moreover, observed suggesting both settings genetic alterations epigenetic deregulation.

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