Frank Bernd, Hemminki Kari, Brenner Hermann, Hoffmeister Michael, Chang-Claude Jenny, Burwinkel Barbara
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.
Cancer Lett. 2006 Dec 8;244(2):172-5. doi: 10.1016/j.canlet.2005.12.006. Epub 2006 Feb 20.
The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis. As the first to evaluate the association between Cys148Arg and Trp149Stop and colorectal cancer (CRC) risk, we genotyped 611 cases with CRC (including 77 cases with a first-degree family history) and 539 controls recruited from the German DACHS study. No significant differences in the genotype frequencies of Cys148Arg and Trp149Stop were observed between cases and controls. However, we showed a non-significant increased risk of familial CRC for both variants (OR=1.40 and 1.45), indicating a possible role of ARLTS1 in familial CRC.
肿瘤抑制基因ARLTS1中的Cys148Arg和Trp149Stop变异易患家族性乳腺癌，这表明这些变异可能也与结直肠癌的发生有关。作为首个评估Cys148Arg和Trp149Stop与结直肠癌（CRC）风险之间关联的研究，我们对从德国DACHS研究中招募的611例CRC患者（包括77例有一级家族病史的患者）和539例对照进行了基因分型。病例组和对照组之间未观察到Cys148Arg和Trp149Stop基因型频率的显著差异。然而，我们发现这两种变异的家族性CRC风险均有非显著性增加（OR = 1.40和1.45），表明ARLTS1在家族性CRC中可能发挥作用。
