Methylation status of p16 gene in colorectal carcinoma and normal colonic mucosa.

Abstract

p16 gene (also known as MTS-1, INK4a, CDKN2A), located on chromosome 9p21, is a G1-specific cell-cycle regulatory gene. It is composed of three exons, which encode 156 amino acids[1]. The gene is frequently inactivated in many human cancers. Unlike other tumor-suppressor genes that are commonly inactivated by point mutations, small homozygous deletions and methylation of the promoter represent the major mechanism of p16 gene inactivation[2,3]. In the Western countries, colorectal carcinoma ranks first among malignant tumors. The mortality from colorectal carcinoma has been rapidly growing in China in the last two to three decades. The genetic alterations involved in this tumor are still unclear. Rare mutation and infrequent deletion of p16 gene in primary colorectal car cinoma has been widely reported[4]. There were a few papers on p16 gene methylation in colorectal carcinoma, but the results were contradictory[5,6]. In this study, we have examined a total of 60 samples of colorectal carcinoma and paired 60 samples of the normal colonic mucosa for methylation by means of PCR-based methylation assay. There is infrequent methylation in the promoter of p16 gene both in colorectal carcinoma and normal colonic mucosa. The methylation status in 5’ CpG island of p16 gene in colorectal carcinoma is not related to the clinical pathologic parameters of these tumors.