Absence of detectable alterations in the putative tumor suppressor gene BTRC in cerebellar medulloblastomas and cutaneous basal cell carcinomas.

摘要: The sonic hedgehog signal transduction pathway is aberrantly activated in the majority of cutaneous basal cell carcinomas and a subset cerebellar medulloblastomas. latter tumors may also show activation wingless (Wnt) signaling pathway. In Drosophila, F-box/WD40-repeat containing protein Slimb has been shown to function as an intracellular negative regulator both pathways. BTRC gene (β-transducin repeat-containing protein) human homolog that located at 10q24.3, chromosome region frequently deleted Here, we report on mutational analysis 91 tumors, including 66 primitive neuroectodermal (PNETs) central nervous system (62 medulloblastomas 4 supratentorial PNETs) 25 (BCCs). These analyses revealed no tumor-associated mutations. transcripts were expressed non-neoplastic brain tissue, normal skin, well all PNETs BCCs analyzed by real-time reverse transcription-PCR. Two novel transcript variants higher levels tissue than skin investigated tumors. Taken together, our results indicate neither mutations nor loss mRNA expression BTRC. Therefore, alteration does not appear be involved pathogenesis these neoplasms.