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目的探讨p53基因第3内含子16bp插入/缺失(p53PIN3)多态性与乳腺癌发病的关系。方法应用PCR检测117例乳腺癌病例石蜡包埋存档标本(乳癌组)和123例无血缘关系的正常对照静脉血(对照组)p53PIN3多态性位点,分析其与乳腺癌发病的关系。结果两组A和A′等位基因频率和A/A、A/A′+A′/A′基因型频率分布差异均有明显统计学差异(P<0.05)。乳癌组中,等位基因和基因型频率分布在Ⅰ-Ⅱ期与Ⅲ-Ⅳ期乳腺癌、有淋巴结转移与无淋巴结转移和肿瘤体积>3cm与肿瘤体积≤3cm之间均存在显著性差异(P<0.05)。结论 p53PIN3多态性与乳腺癌发病存在相关性,可能是汉族妇女乳腺癌发病的易感因素之一。
Objective To investigate the relationship between the polymorphism of the p53 gene intron 3 intron 16bp (p53PIN3) and the incidence of breast cancer. Methods PCR was used to detect the p53PIN3 polymorphic sites in 117 paraffin-embedded archival specimens (breast cancer group) and 123 unrelated normal control venous blood (control group). Results The frequency distributions of A and A′ alleles and A/A and A/A′+A′/A′ genotypes in the two groups were significantly different (P<0.05). In the breast cancer group, allele and genotype frequency distributions were significantly different between stage I-II and III-IV breast cancers, with lymph node metastasis and no lymph node metastasis, and between tumor volume>3 cm and tumor volume <3 cm. P<0.05). Conclusion There is a correlation between p53PIN3 polymorphism and breast cancer. It may be one of the susceptibility factors of breast cancer in Han women.