Mutational Analysis of the MMAC1 Tumour Suppressor Gene in Patients with Juvenile Polyposis Syndrome and Cowden Disease

Issue: Vol.7, No.3 - July 2008

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Article Type: Manuscript

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  1. Dr Issar Nassiri
    Faculty of Science, Genetics Division, Biology Dept., The University of Isfahan
  2. Mehry Faghihi
  3. Manoochehr Tavassoli

Objective: In this study, we evaluate Juvenile Polyposis syndrome and Cowden Disease mutations in PTEN/MMAC1. We identify and characterize point mutations in PTEN, describe the cancer and other phenotypes associated with each of these mutations, and demonstrate loss of the wild type PTEN allele in the associated tumors.

Methods: The 9 patients included in this study were 8 patients with Juvenile polyposis and 1 patient with 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 for detection and characterization of mutations.

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>Gin Iranian patients with Cowden syndrome was found in this study.

Conclusions: The study of these rare patients could provide insight into PTEN driven tumor genesis and facilitate drug development for millions of cancer patients.

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