Campbell Ian G, Eccles Diana M, Choong David Y H
VBCRC Cancer Genetics Laboratory, Centre for Cancer Genomics and Predictive Medicine, Peter MacCallum Cancer Centre, St Andrew's Place, East Melbourne, Victoria 3002, Australia.
Cancer Lett. 2006 Aug 28;240(2):195-7. doi: 10.1016/j.canlet.2005.09.003. Epub 2005 Oct 18.
A functional T to G germline polymorphism in the promoter region of MDM2 (SNP309) has been reported to profoundly accelerate tumor formation suggesting that it may also represent a powerful cancer predisposing allele. To investigate the role of SNP309 in cancer predisposition we undertook a case-control study of this polymorphism among 351 women diagnosed with breast cancer, 302 women diagnosed with ovarian and 258 female controls from a British population. The GG genotype was not associated with either breast cancer (OR 1.04, 95% CI 0.67-1.60) or ovarian cancer (OR 0.86, 95% CI 0.53-1.37). This study has found no evidence that the GG genotype of the MDM2 SNP309 polymorphism is associated with early onset or familial breast cancer or with ovarian cancer.
据报道，MDM2（SNP309）启动子区域功能性的T到G种系多态性会显著加速肿瘤形成，这表明它可能也是一种强大的癌症易感等位基因。为了研究SNP309在癌症易感性中的作用，我们对351名被诊断患有乳腺癌的女性、302名被诊断患有卵巢癌的女性以及来自英国人群的258名女性对照进行了该多态性的病例对照研究。GG基因型与乳腺癌（比值比1.04，95%置信区间0.67 - 1.60）或卵巢癌（比值比0.86，95%置信区间0.53 - 1.37）均无关联。本研究未发现证据表明MDM2 SNP309多态性的GG基因型与早发性或家族性乳腺癌或卵巢癌有关。
