Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same
| dc.rights.license | open | en_US |
| dc.contributor.author | HUQ, A. J. | |
| dc.contributor.author | WALSH, M. | |
| dc.contributor.author | RAJAGOPALAN, B. | |
| dc.contributor.author | FINLAY, M. | |
| dc.contributor.author | TRAINER, A. H. | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | BONNET, Fabrice | |
| dc.contributor.author | SEVENET, N. | |
| dc.contributor.author | WINSHIP, I. M. | |
| dc.date.accessioned | 2020-11-17T09:24:54Z | |
| dc.date.available | 2020-11-17T09:24:54Z | |
| dc.date.issued | 2018-10 | |
| dc.identifier.issn | 1389-9600 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/14054 | |
| dc.description.abstractEn | Many cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene. Approximately 5% of cases have been attributed to a mutation in the SUFU gene. Certain phenotypic features have been identified as being more prevalent in individuals with a SUFU mutation such as childhood medulloblastoma, infundibulocystic BCCs and trichoepitheliomas. Recently hamartomatous skin lesions have also been noted in families with childhood medulloblastoma, a "Gorlin like" phenotype and a SUFU mutation. Here we describe a family previously diagnosed with Gorlin syndrome with a novel SUFU splice site deleterious genetic variant, who have several dermatological features including palmar sclerotic fibromas which has not been described in relation to a SUFU mutation before. We highlight the features more prominent in individuals with a SUFU mutation. It is important to note that emerging therapies for treatment of BCCs in patients with a PTCH1 mutation may not be effective in those with a SUFU mutation. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | MORPH3Eus | |
| dc.title.en | Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same | |
| dc.title.alternative | Fam Cancer | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1007/s10689-018-0073-7 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 29356994 | en_US |
| bordeaux.journal | Familial cancer | en_US |
| bordeaux.page | 601-606 | en_US |
| bordeaux.volume | 17 | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.issue | 4 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.team | MORPH3Eus | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-03009177 | |
| hal.version | 1 | |
| hal.date.transferred | 2020-11-17T09:25:00Z | |
| hal.export | true | |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Familial%20cancer&rft.date=2018-10&rft.volume=17&rft.issue=4&rft.spage=601-606&rft.epage=601-606&rft.eissn=1389-9600&rft.issn=1389-9600&rft.au=HUQ,%20A.%20J.&WALSH,%20M.&RAJAGOPALAN,%20B.&FINLAY,%20M.&TRAINER,%20A.%20H.&rft.genre=article |
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