Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden’s disease

Figure 7 A germline mutation of phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene. A: Genetic analyses performed with informed consent clarified a germline mutation of the PTEN gene in exon 8 of the PTEN gene, which was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon); B: Control.