CIC
小结
CIC是抑癌基因，编码蛋白为一种参与中枢神经系统发育的转录阻遏物。在果蝇中，CIC是受体酪氨酸激酶（RTK）通路（EGFR, Torso和RAS/RAF/MAPK ）的下游成分，并且在没有RTK信号的情况下充当转录阻遏物。CIC在少突胶质细胞瘤中常发生突变，并伴有1p/19q缺失，可能是19号染色体长臂上的抑癌基因之一。CIC在其他几种癌症中也会发生突变，包括胃、结肠直肠癌、乳腺癌、子宫和胰腺，但是发生频率不高。除突变外，在EWSR1阴性高度侵袭性圆形细胞肉瘤中报道，CIC与DUX4或FOXO4融合产生嵌合CIC蛋白的染色体易位。
The CIC gene encodes a transcriptional repressor involved in the development of the central nervous system. CIC was identified in a screen for mutations affecting the anterior-posterior pattern of Drosophila embryos. CIC expression is detected in several normal tissues including the brain, lung, mammary tissue, thymus and lymph nodes. CIC exists in a large protein complex with ATXN1, which directly binds CIC and modulates its transcriptional repressor activity. In Drosophila, CIC is a downstream component of receptor tyrosine kinase (RTK) pathways that include EGFR, Torso and RAS/RAF/MAPK and acts as a transcriptional repressor in the absence of RTK signaling. CIC is frequently mutated in oligodendrogliomas with 1p/19q deletions and is likely to be one of the tumor suppressors on chromosome 19q. To a lesser extent, CIC is mutated in several other cancers including stomach, colorectal, breast, uterine and pancreas. In addition to mutations, chromosomal translocations that produce chimeric CIC proteins fused to either DUX4 or FOXO4 are reported in EWSR1-negative, highly aggressive round cell sarcomas.