Lipton Lara, Fleischmann Christina, Sieber Oliver M, Thomas Huw J W, Hodgson Shirley V, Tomlinson Ian P M, Houlston Richard S
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3PX, UK.
Cancer Lett. 2003 Oct 28;200(2):149-52. doi: 10.1016/s0304-3835(03)00391-4.
Aneuploidy is a characteristic of a subset of colorectal tumours. CHEK2 (also known as CHK2) is one of the cell cycle checkpoint genes coding for a family of proteins that sense damage in eukaryotic cells. Germline variation in CHEK2 has recently been shown to confer cancer susceptibility. Heterozygous mutations have been identified in patients with TP53-negative Li-Fraumeni syndrome. Furthermore, the CHEK2 1100delC variant carried by 1% of the population has been shown to act as a low penetrance allele for both breast and prostate cancers. To further our knowledge about the contribution of CHEK2 1100delC to cancer incidence we have analysed a series of 149 patients with multiple colorectal adenomas some of whom developed colorectal cancer. The CHEK2 1100delC allele was not over-represented in cases suggesting that this variant is not associated with an increased risk of colorectal disease.
非整倍体是一部分结直肠肿瘤的特征。CHEK2（也称为CHK2）是细胞周期检查点基因之一，编码一族能感知真核细胞损伤的蛋白质。最近研究表明，CHEK2的种系变异会导致癌症易感性。在TP53阴性的李-佛美尼综合征患者中已鉴定出杂合突变。此外，1%的人群携带的CHEK2 1100delC变异已被证明是乳腺癌和前列腺癌的低外显率等位基因。为了进一步了解CHEK2 1100delC对癌症发病率的影响，我们分析了149例患有多发性结直肠腺瘤的患者，其中一些患者发展为结直肠癌。CHEK2 1100delC等位基因在病例中并未过度呈现，这表明该变异与结直肠疾病风险增加无关。
