Expression profiling of circulating miRNA in the Neurofibromatosis type 1 and related cancers in a large NF1 Italian cohort

MiRNAs are short noncoding RNAs involved in regulating gene expression at post-transcriptional level. Several studies have suggested their role as biomarkers for various diseases. Its roles in mediating tumorigenesis remain largely unexplored in many disorders, including Neurofibromatosis type 1 (NF1, OMIM#162200), the most frequent autosomal dominant tumour predisposition syndrome, caused by loss-of-function mutations in the NF1 gene. The study aims to identify circulating miRNA profiling in the NF1 and NF1-related cancers and deregulated miRNA gene-target pathways associated to different NF1 phenotypes.