Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.

  • Authors:
    • S Scala
    • P Bruni
    • L Lo Muzio
    • M Mignogna
    • G Viglietto
    • A Fusco
  • View Affiliations

  • Published online on: October 1, 1998     https://doi.org/10.3892/ijo.13.4.665
  • Pages: 665-673
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Cowden disease (CD) is an autosomal dominant multiple hamartoma syndrome with an elevated risk of thyroid and breast cancers. The CD susceptibility gene has recently been identified as the PTEN/MMAC1/TEP1 gene localized at 10q23 and coding for a dual specificity protein phosphatase. We report the mutational analysis of the PTEN gene in one Italian CD kindred. By using the single strand conformation polymorphism technique and subsequent direct DNA sequencing of the polymerase chain reaction product, we identified a novel mutation in the exon 5 of the PTEN gene. A heterozygous germline TGT-TAT transition was detected at the nucleotide 407; this causes the amino acid substitution cys136-tyr136 and the generation of a new NSI I restriction site. This mutation was not detected in the unaffected member of the family thereby indicating that it is causally linked to the disease. We ruled out that this mutation is a polymorphic variant because it was not detected in over 100 chromosomes analyzed. Using reverse trancriptase-polymerase chain reaction, we detected the expression of the mutant allele in lymphocytes and pathological tissues from an affected member of the family.

Related Articles

Journal Cover

Oct 1998
Volume 13 Issue 4

Print ISSN: 1019-6439
Online ISSN:1791-2423

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Scala S, Bruni P, Lo Muzio L, Mignogna M, Viglietto G and Fusco A: Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.. Int J Oncol 13: 665-673, 1998
APA
Scala, S., Bruni, P., Lo Muzio, L., Mignogna, M., Viglietto, G., & Fusco, A. (1998). Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.. International Journal of Oncology, 13, 665-673. https://doi.org/10.3892/ijo.13.4.665
MLA
Scala, S., Bruni, P., Lo Muzio, L., Mignogna, M., Viglietto, G., Fusco, A."Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.". International Journal of Oncology 13.4 (1998): 665-673.
Chicago
Scala, S., Bruni, P., Lo Muzio, L., Mignogna, M., Viglietto, G., Fusco, A."Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.". International Journal of Oncology 13, no. 4 (1998): 665-673. https://doi.org/10.3892/ijo.13.4.665