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High prevalence of germline <Emphasis Type="Italic">STK11</Emphasis>mutations in Hungarian Peutz-Jeghers Syndrome patients |
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| Authors: | Janos Papp Marietta Eva Kovacs Szilvia Solyom Miklos Kasler Anne-Lise Børresen-Dale Edith Olah |
| Institution: | (1) Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary;(2) Laboratory of Cancer Genetics, Department of Clinical Genetics and Biocenter Oulu, University of Oulu, Oulu University Hospital, Oulu, Finland;(3) Department of Head and Neck Surgery, National Institute of Oncology, Budapest, Hungary;(4) Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway;(5) Institute for Clinical Medicine, Faculty of Medicine, Univeristy of Oslo, Norway |
| Abstract: | BackgroundPeutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has been shown to be associated with germline mutations in the STK11/LKB1 tumor suppressor gene. The aim of the present study was to characterize Hungarian PJS patients with respect to germline mutation in STK11/LKB1 and their association to disease phenotype. |
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