Frameshift Mutations of @entity31844 Gene in Gastric and its Regional Heterogeneity in Gastric and XXXX .

@entity1 @entity124 @entity5 @entity26484 @entity2746 @entity14 @entity5088 @entity31844
UNASSIGNED: Mucins are important in tumorigenesis and expressional alterations of mucins are common in @entity1 @entity5 . A membrane-bound mucin @entity31844 and secreted mucins @entity5088 and @entity26484 are known to involve in tumorigenesis, but their mutation status in @entity5 remains unknown. Aim of this study was to explore whether @entity5088 , @entity26484 and @entity31844 genes are mutated and expressionally altered in gastric (GC) and @entity14 ( @entity14 ). In a public database, we found that @entity31844 and @entity26484 genes had mononucleotide repeats in the coding sequences that might be mutation targets in the @entity5 with @entity124 ( @entity2746 ). We analyzed the mutations in 90 GC and 141 @entity14 (high @entity2746 ( @entity2746 ) or stable @entity2746 /low @entity2746 ( @entity2746 )) by single-strand conformation polymorphism analysis and DNA sequencing. In the present study, we found @entity31844 frameshift mutations (14.7% of GC and 15.2% of @entity14 with @entity2746 ), MUC 7 frameshift mutations (2.9% of GC with @entity2746 ) and @entity5088 frameshift mutations (8.8% of GC and 3.8% of @entity14 with @entity2746 ). These mutations were not found in in @entity2746 (0/118). Additionally, we analyzed intratumoral heterogeneity (ITH) of @entity31844 mutation in 16 @entity14 and found that seven @entity14 (43.8%) harbored regional ITH of @entity31844 . We also analyzed @entity31844 expression in GC and @entity14 by immunohistochemistry. Negative @entity31844 expression was identified in 15-41% of the GC and @entity14 irrespective of @entity2746 status. Of note, the negative expression was more common in those with @entity31844 mutations. We identified alterations of MUC genes at various levels (frameshift mutations, genetic ITH and expression loss), which together might play a role in tumorigenesis of GC and @entity14 with @entity2746 . Our data suggest that mutation analysis in multiple regions is needed for a better evaluation of mutation status in @entity14 with @entity2746 .
