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
MetadataShow full item record
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
- First evidence of genotype-phenotype correlations in Gorlin syndrome.
- Authors: Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT
- Issue date: 2017 Aug
- Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
- Authors: Slade I, Murray A, Hanks S, Kumar A, Walker L, Hargrave D, Douglas J, Stiller C, Izatt L, Rahman N
- Issue date: 2011 Jun
- Identification of a SUFU germline mutation in a family with Gorlin syndrome.
- Authors: Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB
- Issue date: 2009 Jul
- Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.
- Authors: Gloude NJ, Yoon JM, Crawford JR
- Issue date: 2016 Jun
- Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.
- Authors: Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K
- Issue date: 2012 Dec