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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.

Original publication

DOI

10.1038/34432

Type

Journal article

Journal

Nature

Publication Date

08/01/1998

Volume

391

Pages

184 - 187

Keywords

Amino Acid Sequence, Cell Line, Chromosome Mapping, Chromosomes, Human, Pair 19, Female, Germ-Line Mutation, Humans, Male, Molecular Sequence Data, Pedigree, Peutz-Jeghers Syndrome, Polymerase Chain Reaction, Protein-Serine-Threonine Kinases, Sequence Homology, Amino Acid, Xenopus Proteins