| First Author | Hemminki A | Year | 1998 |
| Journal | Nature | Volume | 391 |
| Issue | 6663 | Pages | 184-7 |
| PubMed ID | 9428765 | Mgi Jnum | J:45152 |
| Mgi Id | MGI:1194465 | Doi | 10.1038/34432 |
| Citation | Hemminki A, et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391(6663):184-7 |
| abstractText | 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. |
