, Volume 5, Issue 1, pp 81-82
Date: 14 Nov 2003

Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma

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Allelic loss of 19q13 is one of the common molecular abnormalities in malignant gliomas such as glioblastoma. However, extensive mapping efforts and mutation screening of candidate genes at 19q13 have failed to identify a putative tumor suppressor gene in this region [1].

Alterations of receptor tyrosine kinase (RTK) signaling are also common in human glioblastoma. Amplification and overexpression of the EGFR (epidermal growth factor receptor) gene, encoding an RTK with known oncogenic function, is found in about one-third of glioblastomas, but it remains possible that activation of the EGFR signaling pathway occurs by other mechanisms in those glioblastomas that lack gene amplification. RTK signaling is partially controlled by negative regulators; these negative regulators are involved in cellular homeostasis and their deregulation occurs in human oncogenesis [2]. Two RTK negative regulatory genes map to 19q13: CBL-C [3] and SPRED3 [4]. CBL-C is a member of the CBL family, which r ...