TY - JOUR T1 - <em>SMARCB1</em> mutations are not a common cause of multiple meningiomas JF - Journal of Medical Genetics JO - J Med Genet SP - 567 LP - 568 DO - 10.1136/jmg.2009.075721 VL - 47 IS - 8 AU - K D Hadfield AU - M J Smith AU - D Trump AU - W G Newman AU - D G Evans Y1 - 2010/08/01 UR - http://jmg.bmj.com/content/47/8/567.abstract N2 - 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. ER -