Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same
| Autor: | M Finlay, B Rajagopalan, Maie Walsh, Ingrid Winship, Alison H. Trainer, Aamira Huq, N Sevenet, F Bonnet |
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| Rok vydání: | 2018 |
| Předmět: |
Male
Cancer Research Skin Neoplasms Basal Cell Nevus Syndrome Fibroma 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Basal cell carcinoma Genetic Predisposition to Disease Genetics (clinical) Medulloblastoma business.industry PTCH1 Gene Middle Aged medicine.disease Human genetics 3. Good health Pedigree Patched-1 Receptor Repressor Proteins stomatognathic diseases Oncology PTCH1 Carcinoma Basal Cell 030220 oncology & carcinogenesis Mutation (genetic algorithm) Mutation Sclerotic fibroma Cancer research Female RNA Splice Sites business |
| Zdroj: | Familial cancer. 17(4) |
| ISSN: | 1573-7292 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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