Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations." trans "Presentacion y seguimiento de poliposis adenomatosa familiar (PAF): diferencias entre las mutaciones APC y MUTYH.
This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with 2 known mutational hotspots
Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition while for MUTYH gene mutation is associated to reduced mRNA expression.
This first comprehensive investigation of the APC and MUTYH mutation spectrum in Brazilian polyposis patients showed a high detection rate and identified novel pathogenic mutations
Both MutY homologue and adenomatous polyposis coli genes are implicated in attenuated familial adenomatous polyposis though the role of MUTYH is of considerably greater relevance.
APC or MUTYH mutations were detected in 42/48 (88%) 14/20 (70%) and 10/38 (26%) of familial adenomatous polyposis attenuated familial adenomatous polyposis and multiple colorectal adenomas patients respectively.
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