Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Heitzer, E; Lassacher, A; Quehenberger, F; Kerl, H; Wolf, P.
UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
J Invest Dermatol. 2007; 127(12): 2872-2881.
Doi: 10.1038/sj.jid.5700923
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- Führende Autor*innen der Med Uni Graz
- Heitzer Ellen
- Wolf Peter
- Co-Autor*innen der Med Uni Graz
- Kerl Helmut
- Quehenberger Franz
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- Abstract:
- Basal cell carcinoma (BCC) shows a wide interpatient variation in lesion accrual. To determine whether certain tumorigenic fingerprints and potentially predisposing patched (PTCH) tumor suppressor single-nucleotide polymorphisms (SNPs) are distributed differently among sporadic BCC patients, we compared the PTCH mutation spectra in early-onset BCC (first lesion at age < 35 years), regular BCC (first lesion at age > or = 35 years and < 10 lesions), and multiple BCC (> or = 10 lesions). The PTCH gene was mutated in 29 of 60 cases (48%). Most of the PTCH mutations bore the UV fingerprint (i.e., C --> T or tandem CC --> TT transitions at dipyrimidine sites). However, neither the proportion nor the spectra of exonic PTCH mutations differed significantly among the three groups. A large number of SNPs (IVS10+99C/T, IVS11-51G/C, 1665T/C, 1686C/T, IVS15+9G/C, IVS16-80G/C, IVS17+21G/A, and 3944C/T or its combinations) were also detected, but again their incidence did not differ significantly among the groups. Interestingly, expression of the IVS16-80G/C and the IVS17+21G/A genotype did not achieve the Hardy-Weinberg equilibrium in patients with regular and/or early-onset BCC. These data suggest that a (UV-) mutated PTCH gene is important for sporadic BCC formation independent of clinical phenotype and that the IVS16-80G/C and/or IVS17+21G/A SNP site might be important for tumorigenesis in certain BCC patients.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Age of Onset -
- Aged -
- Carcinoma, Basal Cell - genetics
- DNA Mutational Analysis - genetics
- Exons - genetics
- Female - genetics
- Gene Expression Regulation, Neoplastic - genetics
- Genotype - genetics
- Humans - genetics
- Male - genetics
- Middle Aged - genetics
- Mutation - genetics
- Phenotype - genetics
- Polymorphism, Genetic - genetics
- Receptors, Cell Surface - genetics
- Skin Neoplasms - genetics
- Ultraviolet Rays - genetics