Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.
Smith, M Beetz, C Williams, S Bhaskar, S O'Sullivan, J Anderson, B Daly, S Urquhart, J Bholah, Z Oudit, Deemesh
Smith, M
Beetz, C
Williams, S
Bhaskar, S
O'Sullivan, J
Anderson, B
Daly, S
Urquhart, J
Bholah, Z
Oudit, Deemesh
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Abstract
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.
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Date
2014-11-17
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Article
Citation
Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin Oncol