Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.
AffiliationManchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust
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AbstractHeterozygous 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.
CitationGermline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin Oncol
JournalJournal of Clinical Oncology
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