CBP truncating mutations in ovarian cancer

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Abstract
As a result of these observations, a number of studies have evaluated whether CBP is a direct mutational target in cancer and has tumour suppressor activity. One recent mutation screening study of CBP in breast, ovarian, and colorectal tumours and cell lines identified two CBP truncating mutations in ovarian cancer cell lines, but failed to detect mutations in the tumours.12 Haematological malignances displaying loss of heterozygosity (LOH) at the CBP locus have been detected in aged CBP heterozygous mice,13 and in chimeric mice derived from CBP–/– embryonic stem cells.14 In addition, recent studies using an MMTV driven conditional knockout mouse model demonstrated that truncation of the CBP protein in the thymus results in development of T cell lymphomas,15 suggesting that targeted mutations in CBP can predispose to cancer. To determine whether CBP is a mutational target in human epithelial cancers, and specifically to evaluate the presence of CBP mutations in breast and ovarian tumours, we conducted a mutational analysis of the CBP gene.