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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-01

AUTHORS

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, Lauri A. Aaltonen

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 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. More... »

PAGES

184

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/34432

DOI

http://dx.doi.org/10.1038/34432

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008557848

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9428765


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352 rdf:type schema:Organization
353 https://www.grid.ac/institutes/grid.7737.4 schema:alternateName University of Helsinki
354 schema:name #Pathology, Haartman Institute, PO Box 21 (Haartmaninkatu 3), 00014 University of Helsinki, Finland
355 *Departments of Medical Genetics and
356 rdf:type schema:Organization
357 https://www.grid.ac/institutes/grid.8348.7 schema:alternateName John Radcliffe Hospital
358 schema:name §Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK
359 ‡Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
360 ☆ICRF Cancer and Immunogenetics Laboratory, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
361 rdf:type schema:Organization
 




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