Mutations in the PTEN/MMAC1 Gene Associated with Cowden Disease and Juvenile Polyposis Syndrome

Objective: In this study, we evaluated PTEN mutations in Cowden Disease and Juvenile Polyposis syndrome. PTEN mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type PTEN allele in the associated tumors was demonstrated. Methods: Out of 9 patients included in this study, 8 had Juvenile polyposis and 1 had Cowden syndrome. PTEN gene was evaluated by means of polymerase chain reaction, single strand conformation polymorphism (SSCP), Heteroduplex mobility assay (HMA) and direct DNA sequencing. Results: According to the results of this research, nucleotide substitutions in PTEN gene were found in 22٪ (2/9) of patients. The samples were found to be heterozygote for the c.341T>G and c.389G>A mutations. One novel mutation c.341T>G in Iranian patients with Cowden syndrome was found in this study. Conclusions: The study of these rare patients could provide insight into PTEN driven tumorgenesis.