Wang-Gohrke S, Rebbeck T R, Besenfelder W, Kreienberg R, Runnebaum I B
Department of Obstetrics and Gynecology, University of Ulm, Germany.
Anticancer Res. 1998 May-Jun;18(3B):2095-9.
Three germline p53 polymorphisms, a 16 bp duplication in intron 3, a Bst UI RFLP in exon 4 and Msp I RFLP in intron 6 have previously been tested for a association with Swedish breast cancer patients. The rare Bst UI allele was found to be associated with breast cancer in the Swedish patients (OR 1.47, 95% CI, 1.08-2.00). In our hospital-based case-control study leukocyte DNA of 107 breast cancer patients and 305 control women was analyzed. Individuals heterozygous at all 3 polymorphic sites (27/107) were over-represented in the breast cancer group with an age-adjusted OR of 2.01 (95% CI, 1.02-3.94). Haplotype analysis identified the 16 bp A2 allele (with 16 bp duplication) and Msp I A1 allele (loss of Msp I restriction site) as risk alleles. The results of this study suggest that the rare alleles 16 bp A 2 and Msp I A1 of the p53 locus may modify the risk of breast cancer in German women.
此前已对三种种系p53多态性进行检测，以研究其与瑞典乳腺癌患者的相关性，这三种多态性分别为：内含子3中的16 bp重复、外显子4中的Bst UI限制性片段长度多态性（RFLP）以及内含子6中的Msp I RFLP。在瑞典患者中发现罕见的Bst UI等位基因与乳腺癌相关（比值比1.47，95%置信区间为1.08 - 2.00）。在我们基于医院的病例对照研究中，分析了107例乳腺癌患者和305名对照女性的白细胞DNA。在所有三个多态性位点均为杂合子的个体（27/107）在乳腺癌组中占比过高，年龄调整后的比值比为2.01（95%置信区间为1.02 - 3.94）。单倍型分析确定16 bp A2等位基因（伴有16 bp重复）和Msp I A1等位基因（Msp I限制性位点缺失）为风险等位基因。本研究结果表明，p53基因座的罕见等位基因16 bp A2和Msp I A1可能会改变德国女性患乳腺癌的风险。
