Nilbert M, Rambech E
Department of Oncology, University Hospital, 221 85 Lund, Sweden.
Cancer Genet Cytogenet. 2001 Jul 1;128(1):43-5. doi: 10.1016/s0165-4608(01)00397-1.
Increased transcriptional activation through beta-catenin stabilization plays a central role in colorectal tumorigenesis. Alterations of phosphorylation sites within the CTNNB1 gene, which codes for beta-catenin has been reported to occur in about one-half of colorectal tumors without APC-gene mutations. We assessed the importance of mutations in the regulatory domain, located within exon 3 of CTNNB1, in 103 rectal carcinomas and correlated these data with presence of microsatellite instability, somatic frame-shift alterations of the TCF-4 gene, and APC-gene mutations in the tumors. No mutation was detected in exon 3 of the CTNNB1 gene and our results thus demonstrate that beta-catenin activation through mutation rarely contributes to the development of sporadic and microsatellite instability stable rectal cancer.
通过β-连环蛋白稳定化增加转录激活在结直肠癌发生中起核心作用。编码β-连环蛋白的CTNNB1基因内磷酸化位点的改变据报道发生在约一半无APC基因突变的结直肠癌中。我们评估了位于CTNNB1基因第3外显子内的调节域突变在103例直肠癌中的重要性，并将这些数据与肿瘤中微卫星不稳定性的存在、TCF-4基因的体细胞移码改变以及APC基因突变相关联。在CTNNB1基因的第3外显子中未检测到突变，因此我们的结果表明，通过突变激活β-连环蛋白很少促成散发性和微卫星不稳定性稳定的直肠癌的发生。
