Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management
Background: Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Cellular Oncology |
| Online Access: | http://dx.doi.org/10.3233/CLO-2009-0498 |
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| author | Mario A. Hermsen María A. Sevilla José Luis Llorente Marjan M. Weiss Anneliese Grimbergen Eva Allonca Cristina Garcia-Inclán Milagros Balbín Carlos Suárez |
| author_facet | Mario A. Hermsen María A. Sevilla José Luis Llorente Marjan M. Weiss Anneliese Grimbergen Eva Allonca Cristina Garcia-Inclán Milagros Balbín Carlos Suárez |
| author_sort | Mario A. Hermsen |
| collection | DOAJ |
| description | Background: Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation. |
| format | Article |
| id | doaj-art-7d9ad31516c24ffaa8d350a4a04c61e9 |
| institution | Kabale University |
| issn | 1570-5870 1875-8606 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cellular Oncology |
| spelling | doaj-art-7d9ad31516c24ffaa8d350a4a04c61e92025-02-03T01:13:06ZengWileyCellular Oncology1570-58701875-86062010-01-0132427528310.3233/CLO-2009-0498Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical ManagementMario A. Hermsen0María A. Sevilla1José Luis Llorente2Marjan M. Weiss3Anneliese Grimbergen4Eva Allonca5Cristina Garcia-Inclán6Milagros Balbín7Carlos Suárez8Department of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsDepartment of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Molecular Oncology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainDepartment of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, SpainBackground: Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation.http://dx.doi.org/10.3233/CLO-2009-0498 |
| spellingShingle | Mario A. Hermsen María A. Sevilla José Luis Llorente Marjan M. Weiss Anneliese Grimbergen Eva Allonca Cristina Garcia-Inclán Milagros Balbín Carlos Suárez Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management Cellular Oncology |
| title | Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management |
| title_full | Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management |
| title_fullStr | Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management |
| title_full_unstemmed | Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management |
| title_short | Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management |
| title_sort | relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management |
| url | http://dx.doi.org/10.3233/CLO-2009-0498 |
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