4.5 Article

SMARCB1 mutations are not a common cause of multiple meningiomas

期刊

JOURNAL OF MEDICAL GENETICS
卷 47, 期 8, 页码 567-568

出版社

BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2009.075721

关键词

-

资金

  1. Cancer Research UK [C1389/A6964]
  2. Children's Tumor Foundation
  3. NIHR Manchester Biomedical Research Centre
  4. Children's Tumor Foundation, USA

向作者/读者索取更多资源

Background 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 a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of 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. Methods We screened the SMARCB1 gene in a panel of 47 patients with multiple meningioma unrelated to NF2. Results We found no germline mutations. Conclusion We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据