Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.
Authors
Smith, MBeetz, C
Williams, S
Bhaskar, S
O'Sullivan, J
Anderson, B
Daly, S
Urquhart, J
Bholah, Z
Oudit, Deemesh
Cheesman, E
Kelsey, A
McCabe, Martin
Newman, W
Evans, D
Affiliation
Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation TrustIssue Date
2014-11-17
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Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but detection rates > 70% have rarely been reported. We aimed to define the causative mutations in individuals with Gorlin syndrome without PTCH1 mutations.Citation
Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin OncolJournal
Journal of Clinical OncologyDOI
10.1200/JCO.2014.58.2569PubMed ID
25403219Type
ArticleLanguage
enISSN
1527-7755ae974a485f413a2113503eed53cd6c53
10.1200/JCO.2014.58.2569
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