Jones S, Lambert S, Williams G T, Best J M, Sampson J R, Cheadle J P
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.
Br J Cancer. 2004 Apr 19;90(8):1591-3. doi: 10.1038/sj.bjc.6601747.
Colorectal tumours from MYH polyposis patients display an excess of somatic G : C --> T : A transversions in the adenomatous polyposis coli gene. Here, we identify k-ras mutations in nine out of 54 (16.7%) MYH polyposis tumours. Their presence was associated with increased dysplasia and tubulovillous morphology (P=0.005). G : C --> T : A transversions in k-ras were significantly more frequent in MYH polyposis adenomas than in sporadic or familial adenomatous polyposis-associated tumours (P<or=0.002), and all resulted in a glycine-to-cysteine substitution at codon 12.
MYH息肉病患者的结直肠肿瘤在腺瘤性息肉病基因中显示出过多的体细胞G:C→T:A颠换。在此,我们在54例MYH息肉病肿瘤中的9例(16.7%)中鉴定出k-ras突变。它们的存在与发育异常增加和管状绒毛形态有关(P = 0.005)。k-ras中的G:C→T:A颠换在MYH息肉病腺瘤中比在散发性或家族性腺瘤性息肉病相关肿瘤中明显更频繁(P≤0.002),并且所有这些颠换都导致密码子12处的甘氨酸到半胱氨酸替代。