Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations.
dc.contributor.author | Smith, M | |
dc.contributor.author | Beetz, C | |
dc.contributor.author | Williams, S | |
dc.contributor.author | Bhaskar, S | |
dc.contributor.author | O'Sullivan, J | |
dc.contributor.author | Anderson, B | |
dc.contributor.author | Daly, S | |
dc.contributor.author | Urquhart, J | |
dc.contributor.author | Bholah, Z | |
dc.contributor.author | Oudit, Deemesh | |
dc.contributor.author | Cheesman, E | |
dc.contributor.author | Kelsey, A | |
dc.contributor.author | McCabe, Martin | |
dc.contributor.author | Newman, W | |
dc.contributor.author | Evans, D | |
dc.date.accessioned | 2014-11-27T09:53:21Z | |
dc.date.available | 2014-11-27T09:53:21Z | |
dc.date.issued | 2014-11-17 | |
dc.identifier.citation | Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations. 2014: J Clin Oncol | en |
dc.identifier.issn | 1527-7755 | |
dc.identifier.pmid | 25403219 | |
dc.identifier.doi | 10.1200/JCO.2014.58.2569 | |
dc.identifier.uri | http://hdl.handle.net/10541/336215 | |
dc.description.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. | |
dc.language | ENG | |
dc.language.iso | en | en |
dc.rights | Archived with thanks to Journal of clinical oncology : official journal of the American Society of Clinical Oncology | en |
dc.title | Germline mutations in SUFU cause Gorlin Syndrome-associated childhood medulloblastoma and redefine the risk associated With PTCH1 mutations. | en |
dc.type | Article | en |
dc.contributor.department | Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust | en |
dc.identifier.journal | Journal of Clinical Oncology | en |
html.description.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. |