A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
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 tum...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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1998
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| _version_ | 1826292224440139776 |
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| author | 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, A Stratton, MR de la Chapelle, A Aaltonen, L |
| author_facet | 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, A Stratton, MR de la Chapelle, A Aaltonen, L |
| author_sort | Hemminki, A |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T03:11:23Z |
| format | Journal article |
| id | oxford-uuid:b453a5d0-e8ba-412a-ba88-e43c0455d3a8 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:11:23Z |
| publishDate | 1998 |
| record_format | dspace |
| spelling | oxford-uuid:b453a5d0-e8ba-412a-ba88-e43c0455d3a82022-03-27T04:25:15ZA serine/threonine kinase gene defective in Peutz-Jeghers syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b453a5d0-e8ba-412a-ba88-e43c0455d3a8EnglishSymplectic Elements at Oxford1998Hemminki, AMarkie, DTomlinson, IAvizienyte, ERoth, SLoukola, ABignell, GWarren, WAminoff, MHöglund, PJärvinen, HKristo, PPelin, KRidanpää, MSalovaara, RToro, TBodmer, WOlschwang, SOlsen, AStratton, MRde la Chapelle, AAaltonen, LStudies 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. |
| spellingShingle | 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, A Stratton, MR de la Chapelle, A Aaltonen, L A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title_full | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title_fullStr | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title_full_unstemmed | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title_short | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. |
| title_sort | serine threonine kinase gene defective in peutz jeghers syndrome |
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