Hemminki A, et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391(6663):184-7
Abstract: 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.
|Status: Published||Type: Journal Article||PubMed ID: 9428765|
Topics addressed in this paper
- To go to the Locus page for a gene, click on the gene name.
|Disease Gene Related|
|Non-Fungal Related Genes/Proteins|