Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients

Clin Genet. 2002 Oct;62(4):282-7. doi: 10.1034/j.1399-0004.2002.620405.x.


Peutz-Jeghers syndrome (PJS) is a rare cancer predisposition, which is characterized by the presence of hamartomatous polyposis and mucocutaneous pigmentation. A significant proportion of both familial and sporadic forms of this disorder are associated with mutations in the STK11 (serine/threonine kinase 11)/LKB1 gene. In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history. The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP-Activated Protein Kinase Kinases
  • Australia
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Female
  • Genetic Heterogeneity
  • Humans
  • Male
  • Mutation
  • Peutz-Jeghers Syndrome / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Sequence Analysis


  • Protein Serine-Threonine Kinases
  • STK11 protein, human
  • AMP-Activated Protein Kinase Kinases