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

摘要: Studies of hereditary cancer syndromes have contributed greatly to our understanding molecular events involved in tumorigenesis. Here we investigate the background Peutz–Jeghers syndrome1,2 (PJS), a rare disease which there is predisposition benign and malignant tumours many organ systems. A locus for this condition was recently assigned chromosome 19p (ref. 3). We identified truncating germline mutations gene residing on multiple individuals affected by PJS. This previously but unmapped gene, LKB1 4), has strong homology cytoplasmic Xenopus serine/threonine protein kinase XEEK1 5), weaker similarity other kinases. syndrome therefore first cancer-susceptibility be that due inactivating kinase.