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

Journal article

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.

Authors: Hemminki, A; Markie, D; Tomlinson, I; Avizienyte, E; Roth, S

• Publication status: Published
• Journal: Nature
• Volume: 391
• Issue: 6663
• Pages: 184-187
• Publication date: 1998-01-01
• DOI: 10.1038/34432
• EISSN: 1476-4687
• ISSN: 0028-0836
• Language: English
• Keywords: Xenopus Proteins; Cell Line; Molecular Sequence Data; Humans; Chromosome Mapping; Germ-Line Mutation; Chromosomes, Human, Pair 19; Peutz-Jeghers Syndrome; Female; Sequence Homology, Amino Acid; Polymerase Chain Reaction; Protein-Serine-Threonine Kinases; Amino Acid Sequence; Pedigree; Male