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XB-ART-15613
Nature 1998 Jan 08;3916663:184-7. doi: 10.1038/34432.
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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

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


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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.

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Species referenced: Xenopus
Genes referenced: stk11