Academic Journal
SMARCB1 mutations are not a common cause of multiple meningiomas
| العنوان: | SMARCB1 mutations are not a common cause of multiple meningiomas |
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| المؤلفون: | Hadfield, Kristen D, Smith, Miriam J, Trump, Dorothy, Newman, William G, Evans, D. Gareth R |
| المساهمون: | University of Manchester Manchester |
| المصدر: | ISSN: 0022-2593. |
| بيانات النشر: | HAL CCSD BMJ Publishing Group |
| سنة النشر: | 2010 |
| المجموعة: | Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) |
| مصطلحات موضوعية: | Molecular genetics, Oncology |
| الوصف: | International audience ; Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They are also found commonly within the general population, unrelated to NF2. Germline SMARCB1 mutations have recently been identified as causative in a subset of familial schwannomatosis cases and is a candidate for both schwannomas and meningiomas. Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas. We screened the SMARCB1 gene in a panel of 47 patients with multiple meningioma unrelated to NF2 and found no germline mutations. We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | hal-00557387; https://hal.science/hal-00557387; https://hal.science/hal-00557387/document; https://hal.science/hal-00557387/file/PEER_stage2_10.1136%252Fjmg.2009.075721.pdf |
| DOI: | 10.1136/jmg.2009.075721 |
| الاتاحة: | https://hal.science/hal-00557387 https://hal.science/hal-00557387/document https://hal.science/hal-00557387/file/PEER_stage2_10.1136%252Fjmg.2009.075721.pdf https://doi.org/10.1136/jmg.2009.075721 |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.ADAA5610 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmg.2009.075721 |
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