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- W2013419282 abstract "Peripheral nerve sheath tumours are hallmarks of neurofibromatosis type 1 (NF1). Development of plexiform neurofibromas to malignant peripheral nerve sheath tumours (MPNST) is common. The NF1 gene promoter harbours a hypomethylated CpG island. Thus, methylation changes may be involved in the development of different types of neurofibromas and malignant transformation. We investigated NF1-associated dermal (n=9) and plexiform neurofibromas (n=7), MPNST (n=5) and non-NF1 leucocyte samples (n=20) for their methylation pattern by bisulphite genomic sequencing. We could not find global hypermethylation in the NF1 promoter in our series. Nevertheless, site-specific methylation, involving transcription factor binding sites for SP1, CRE (-10), and AP-2, was observed. One region of the 5'-UTR (untranslated region) overlapping with a putative AP-2 binding site was methylated at 30-100% in 4/20 control samples. In conclusion, we did not find hypermethylation in NF1-associated tumours. Instead, low level methylation could parallel a global genomic hypomethylation in malignancy." @default.
- W2013419282 created "2016-06-24" @default.
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- W2013419282 date "2004-12-01" @default.
- W2013419282 modified "2023-10-03" @default.
- W2013419282 title "Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours" @default.
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- W2013419282 doi "https://doi.org/10.1016/j.ejca.2004.07.021" @default.
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