Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil

摘要: AIM: To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed familial adenomatous polyposis (FAP) northern Brazil. METHODS: A total of 15 FAP from 5 different families the north Brazil were analyzed this study. In addition to patients histopathological diagnosis FAP, family members who had not developed disease also tested order identify for possible genetic counseling. All or their guardians signed a consent form approved by Research Ethics Committee Joao de Barros Barreto University Hospital (Belem, Brazil). DNA extracted peripheral blood member each affected was subjected direct sequencing. The proband sequenced germline using Ion Torrent platform. validate detected mutations, Sanger sequencing performed. samples all identification real-time quantitative polymerase chain reaction amplification refractory mutation system. RESULTS: Through interviews relatives search medical records, it construct genograms three five included exhibited gene, exon gene. histological without symptoms showed present study, we two most frequent literature: at codon 1309 1061. presence c.3956delC found suggests that introduced population State Para through ancestor immigration (i.e., novo arose one belonging state Brazil). CONCLUSION: Regardless its origin, is strong candidate biomarker hereditary cancer syndrome Brazil.