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

Akseli Hemminki, David Markie, Ian Tomlinson, Egle Avizienyte, Stina Roth, Anu Loukola, Graham Bignell, William Warren, Maria Aminoff, Pia Höglund, Heikki Järvinen, Paula Kristo, Katarina Pelin, Maaret Ridanpää, Reijo Salovaara, Tumi Toro, Walter Bodmer, Sylviane Olschwang, Anne S. Olsen, Michael R. Stratton, Albert de la Chapelle and Lauri A. Aaltonen ()
Additional contact information
Akseli Hemminki: Departments of Medical Genetics
David Markie: Dunedin School of Medicine
Ian Tomlinson: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research
Egle Avizienyte: Departments of Medical Genetics
Stina Roth: Departments of Medical Genetics
Anu Loukola: Departments of Medical Genetics
Graham Bignell: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research
William Warren: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research
Maria Aminoff: Departments of Medical Genetics
Pia Höglund: Departments of Medical Genetics
Heikki Järvinen: Helskinki University Central Hospital
Paula Kristo: Departments of Medical Genetics
Katarina Pelin: Departments of Medical Genetics
Maaret Ridanpää: Departments of Medical Genetics
Reijo Salovaara: Departments of Medical Genetics
Tumi Toro: Dunedin School of Medicine
Walter Bodmer: ICRF Cancer and Immunogenetics Laboratory, Institute of Molecular Medicine, John Radcliffe Hospital
Sylviane Olschwang: Inserm U434, Fondation Jean Dausset-CEPH F75010 Paris
Anne S. Olsen: Human Genome Center, L-452, Lawrence Livermore National Laboratory
Michael R. Stratton: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research
Albert de la Chapelle: Departments of Medical Genetics
Lauri A. Aaltonen: Departments of Medical Genetics

Nature, 1998, vol. 391, issue 6663, 184-187

Abstract: 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 syndrome1,2 (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 (ref. 3). 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 (ref. 4), has strong homology to a cytoplasmic Xenopus serine/threonine protein kinase XEEK1 (ref. 5), 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.

Date: 1998
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DOI: 10.1038/34432

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