Vasconcelos André, Medeiros Rui, Veiga Isabel, Pereira Deolinda, Carrilho Susana, Palmeira Carlos, Azevedo Cândida, Lopes Carlos S
Oncologia Molecular-Serv. de Anat. Patológica, Centro Regional Norte, Instituto Português de Oncologia Francisco Gentil, Porto, Portugal.
Breast J. 2002 Jul-Aug;8(4):226-9. doi: 10.1046/j.1524-4741.2002.08407.x.
Breast cancer is the most frequent neoplasm in women. Expression of the estrogen receptor (ER) has a key role in breast cancer; the ER gene is located at chromosome 6q24-q27 and is made up of 8 exons with a total of 140 kb. The polymorphism in codon 325 of exon 4 (ER325) is a transition CCC-->CCG. The objective of this study is to analyze the frequency of this polymorphism in breast cancer using the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) technology. DNA was extracted from tumor cells of 70 breast cancer patients and from the peripheral blood of 69 individuals without any known pathology (control group). Amplification products of the ER gene were analyzed by SSCP. In breast cancer patients the ER325 polymorphism was detected in 42.8% of the cases. In contrast, in the control group, the frequency of the same polymorphism was 24.6. Statistical comparison of the frequency distributions revealed that they are significantly different (p = 0.023). There was also an association between ER325 polymorphism and the absence of lymph node metastases (p = 0.038). Our data suggest that there is a relationship between the ER325 polymorphism and susceptibility to breast cancer (OR = 2.3; 1.10 < OR < 5.1) and that it can also be related with the metastasization process.
乳腺癌是女性中最常见的肿瘤。雌激素受体（ER）的表达在乳腺癌中起关键作用；ER基因位于6号染色体q24 - q27，由8个外显子组成，共140 kb。外显子4密码子325处的多态性（ER325）是一个CCC→CCG的转换。本研究的目的是使用聚合酶链反应单链构象多态性（PCR - SSCP）技术分析该多态性在乳腺癌中的频率。从70例乳腺癌患者的肿瘤细胞和69例无任何已知病理情况的个体（对照组）的外周血中提取DNA。通过SSCP分析ER基因的扩增产物。在乳腺癌患者中，42.8%的病例检测到ER325多态性。相比之下，在对照组中，相同多态性的频率为24.6。频率分布的统计学比较显示它们有显著差异（p = 0.023）。ER325多态性与无淋巴结转移之间也存在关联（p = 0.038）。我们的数据表明，ER325多态性与乳腺癌易感性之间存在关系（OR = 2.3；1.10 < OR < 5.1），并且它也可能与转移过程有关。
