Fig. 4

Deleterious mutation in CDH1 exon-12 in the index tumor sample. Chromatograms indicate the mutant allele present in the tumor sample (red arrows), both in the forward and reverse strand sequencing. The tumor specific mutation in exon-12; C1828T_Q610Stop gain, leads to early truncation of the CDH1 protein. The wild type allele (blue arrows) in the corresponding nucleotide position, detected in the adjacent normal sample from this index case, both in the forward and reverse strands are shown alongside for comparison (a). A nearby single nucleotide polymorphism (SNP) position in Exon 13 T/C2076T A692A_SNP_position (rs1801552) shows loss of heterozygosity of CDH1 loci in the tumor (b). Location of the deleterious stop gain mutation (red lollipop) observed in the index tumor (Sample name in red) and various missense mutations (green lollipops; of unknown significance) observed among the TCGA Bladder Urothelial Carcinomas (6/121 samples)- is represented in the CDH1 pfam protein domain structure schematic diagram using the Mutation Mapper tool (www.cbioportal.org) (c)