A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

A Hemminki, D Markie, I Tomlinson, E Avizienyte, S Roth, A Loukola, G Bignell, W Warren, M Aminoff, P Höglund, H Järvinen, P Kristo, K Pelin, M Ridanpää, R Salovaara, T Toro, W Bodmer, S Olschwang, A S Olsen, M R StrattonA de la Chapelle, L A Aaltonen

Research output: Contribution to journalArticlepeer-review


Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumorigenesis. Here we investigate the molecular background of the Peutz-Jeghers syndrome (PJS), a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems. A locus for this condition was recently assigned to chromosome 19p. We have identified truncating germline mutations in a gene residing on chromosome 19p in multiple individuals affected by PJS. This previously identified but unmapped gene, LKB1, has strong homology to a cytoplasmic Xenopus serine/threonine protein kinase XEEK1, and weaker similarity to many other protein kinases. Peutz-Jeghers syndrome is therefore the first cancer-susceptibility syndrome to be identified that is due to inactivating mutations in a protein kinase.

Original languageEnglish
Pages (from-to)184-7
Number of pages4
Issue number6663
Publication statusPublished - 8 Jan 1998


  • Amino Acid Sequence
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19
  • Female
  • Germ-Line Mutation
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Peutz-Jeghers Syndrome/enzymology
  • Polymerase Chain Reaction
  • Protein-Serine-Threonine Kinases/chemistry
  • Sequence Homology, Amino Acid
  • Xenopus Proteins


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