Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
| Autor: | Elisabeth H Jaspars, N.C.T. van Grieken, M. B. A. van Doorn, Edward M Leter, Ernie M.H.F. Bongers, Paul C Johannesma, Pieter E. Postmus, Lieke Gijezen, J-H T. M. van Waesberghe, Theo M. Starink, M.A.M. van Steensel, Arjan C. Houweling, Rogier A. Oldenburg, R.J.A. Van Moorselaar, Marianne A. Jonker, T. A. M. van Os, Johan J.P. Gille, K. Y. van Spaendonck-Zwarts, M. M. de Jong, Fred H. Menko |
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| Přispěvatelé: | Stochastics, Mathematics, Human Genetics, Dermatologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Dermatology, Pathology, Pulmonary medicine, Urology, Radiology and nuclear medicine, CCA - Oncogenesis |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Oncology Cancer Research medicine.medical_specialty Pathology pneumothorax discoid fibroma fibrofolliculoma renal cancer folliculin Disease TRICHODISCOMAS Birt–Hogg–Dubé syndrome SDG 3 - Good Health and Well-being GENE FLCN Proto-Oncogene Proteins Internal medicine Eosinophilic medicine MANAGEMENT Humans Genetic Predisposition to Disease Birt-Hogg-Dube syndrome Folliculin Aged SPECTRUM business.industry Tumor Suppressor Proteins Cancer Genetics and Genomics LUNG CYSTS ADULTS Middle Aged CELL CARCINOMA medicine.disease Penetrance TUMORS Kidney Neoplasms Pneumothorax Mutation Female business Clear cell |
| Zdroj: | British Journal of Cancer, 105(12), 1912-1919. Nature Publishing Group Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A M, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J H T M, Starink, T M, van Steensel, M A M, Gille, J J P & Menko, F H 2011, ' Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families ', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919 . https://doi.org/10.1038/bjc.2011.463 British Jounal of Cancer, 105(12), 1912-1919. Nature Publishing Group British Journal of Cancer British journal of cancer, 105(12), 1912-1919. Nature Publishing Group |
| ISSN: | 0007-0920 |
| Popis: | Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. Methods: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. Results: Among 14 FLCN mutation carriers who developed renal cancer 7 were |
| Databáze: | OpenAIRE |
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