Guleria Kamlesh, Sharma Sarika, Manjari Mridu, Uppal Manjit Singh, Singh Neeti Rajan, Sambyal Vasudha
Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Punjab, India.
Asian Pac J Cancer Prev. 2012;13(7):3305-11. doi: 10.7314/apjcp.2012.13.7.3305.
The present study aimed to find the prognostic implications of two polymorphisms in TP53 (p.R72P, PIN3 Ins16bp) and one in CCR5 (CCR5/32) in sporadic breast cancer patients.
DNA samples of 80 breast cancer patients and 80 age and gender matched unrelated healthy control individuals from Punjab, North West India were analyzed.
For p.R72P, the genotype frequency was 13.8% (RR), 58.8% (RP), 27.5% (PP) in patients and 33.9% (RR), 40.0% (RP), 26.5% (PP) in controls. For PIN3 Ins16bp, the genotype frequencies were 53.75% (A1A1), 37.5% (A1A2), 8.75% (A2A2) in patients and 66.3% (A1A1), 31.3% (A1A2), 2.5% (A2A2) in controls. Only 4 (5%) breast cancer patients were heterozygous for CCR5Δ32 deletion. Common RR-A1A1-WT/WT genotype was lower while RP-A1A2-WT/WT genotype was higher in patients as compared to controls. RP-A1A1-WT/WT genotype was significantly higher in patients as compared to control individuals (p = 0.008).
Though a clear association of any particular genotype with sporadic breast cancer or stage was not apparent, the results of present study were suggestive that sporadic breast cancer patients with RR-A1A1-WT/WT genotype might have a better response to chemotherapy, thus improving their chances of survival.
本研究旨在探究TP53基因的两个多态性位点（p.R72P、PIN3 Ins16bp）以及CCR5基因的一个多态性位点（CCR5/32）在散发性乳腺癌患者中的预后意义。
对来自印度西北部旁遮普邦的80例乳腺癌患者以及80例年龄和性别匹配的无血缘关系健康对照个体的DNA样本进行分析。
对于p.R72P，患者的基因型频率为13.8%（RR）、58.8%（RP）、27.5%（PP），对照个体的基因型频率为33.9%（RR）、40.0%（RP）、26.5%（PP）。对于PIN3 Ins16bp，患者的基因型频率为53.75%（A1A1）、37.5%（A1A2）、8.75%（A2A2），对照个体的基因型频率为66.3%（A1A1）、31.3%（A1A2）、2.5%（A2A2）。仅有4例（5%）乳腺癌患者为CCR5Δ32缺失杂合子。与对照相比，患者中常见的RR-A1A1-WT/WT基因型频率较低，而RP-A1A2-WT/WT基因型频率较高。与对照个体相比，患者中RP-A1A1-WT/WT基因型频率显著更高（p = 0.008）。
虽然未发现任何特定基因型与散发性乳腺癌或分期之间存在明显关联，但本研究结果提示，具有RR-A1A1-WT/WT基因型的散发性乳腺癌患者可能对化疗反应更好，从而提高其生存几率。
