Naidu R, Yip C H, Taib N A
School of Medicine and Health Sciences, Monash University, Jalan Lagoon Selatan, Selangor Darul Ehsan, Malaysia.
Neoplasma. 2008;55(2):87-95.
The HER2 codon Ile655Val and Cyclin D1 (CCND1) G870A polymorphisms were analyzed in a hospital-based Malaysian population using PCR-RFLP method. Peripheral blood samples were collected from 230 breast cancer patients, and 200 normal and healthy women who had no history of breast disease or breast cancer. We evaluated the association between HER2 or CCND1 polymorphisms and breast cancer risk, and clinico-pathological parameters in the population. The genotype and allele frequencies of HER2 (P=0.163 vs P=0.0622) and CCND1 (P=0.377 vs P=0.284) polymorphisms were not significantly different between the breast cancer cases and normal subjects, respectively. Women who were Ile/Val heterozygotes (OR=1.48; 95% CI, 0.91-2.43), Val/Val homozygotes (OR=1.93; 95% CI, 0.51-7.77) and carriers of Val allele genotype (OR=1.53; 95% CI, 0.95-2.45) were not significantly associated with increased breast cancer risk. Similarly, women who were homozygous (OR=1.34; 95% CI, 0.77-2.34) or heterozygous (OR=0.98; 95% CI, 0.60-1.60) for A allele, or carriers of A allele genotype (OR=1.10; 95% CI, 0.70-1.73) were not associated with breast cancer risk. Analysis on clinico-pathological parameters showed that Val allele genotype was significantly correlated with nodal metastases but A allele genotype was not associated with any of the variables. Our findings suggest that the polymorphic alleles of HER2 and CCND1 may not play an important role as genetic markers for breast cancer risk, but presence of Val allele may be useful for tumor prognosis.
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对马来西亚一个以医院为基础的人群中的人表皮生长因子受体2（HER2）密码子Ile655Val和细胞周期蛋白D1（CCND1）G870A多态性进行了分析。收集了230例乳腺癌患者以及200名无乳腺疾病或乳腺癌病史的正常健康女性的外周血样本。我们评估了HER2或CCND1多态性与乳腺癌风险以及该人群临床病理参数之间的关联。HER2多态性的基因型和等位基因频率（P = 0.163对比P = 0.0622）以及CCND1多态性的基因型和等位基因频率（P = 0.377对比P = 0.284）在乳腺癌病例和正常受试者之间分别无显著差异。Ile/Val杂合子女性（比值比[OR]=1.48；95%置信区间[CI]，0.91 - 2.43）、Val/Val纯合子女性（OR = 1.93；95% CI，0.51 - 7.77）以及Val等位基因基因型携带者（OR = 1.53；95% CI，0.95 - 2.45）与乳腺癌风险增加无显著关联。同样，A等位基因纯合子女性（OR = 1.34；95% CI，0.77 - 2.34）或杂合子女性（OR = 0.98；95% CI，0.60 - 1.60），或A等位基因基因型携带者（OR = 1.10；95% CI，0.70 - 1.73）与乳腺癌风险无关。临床病理参数分析表明，Val等位基因基因型与淋巴结转移显著相关，但A等位基因基因型与任何变量均无关联。我们的研究结果表明，HER2和CCND1的多态性等位基因可能并非作为乳腺癌风险的遗传标志物发挥重要作用，但Val等位基因的存在可能对肿瘤预后有用。
