Institute of Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.
Maturitas. 2011 Aug;69(4):377-82. doi: 10.1016/j.maturitas.2011.05.008.
Cancer incidences and mortality rates are rapidly increasing and breast cancer is among the most frequent malignancy experienced in women worldwide. The occurrence of breast cancer could be associated with various social, cultural, environmental, life-style, hormonal and genetic factors.
To establish if PvuII and XbaI polymorphisms of estrogen receptor alpha would make Pakistani women more susceptible to breast cancer. Furthermore, association between breast cancer and various factors was also explored to establish the contributing factors in breast cancer in Pakistani population.
Two hundred samples, aged 15-65 years, consisting of 100 breast cancer patients and 100 control samples were ascertained for this case-control study in order to evaluate the factors related to disease incidence. 5-7 ml of blood sample of each participating women in the study was collected and analyzed for polymorphisms of PvuII and XbaI using PCR-RFLP method.
The menopause had strong influence on incidences of cancer with ca 18-fold increase in risk of breast cancer in women with menopause compared with non-menopaused. Furthermore significant impact of menopause age (P<0.0001) was observed on the incidence of cancer, as high rate of cancer incidence was observed in patients with age between 36 and 45 years (P<0.0001). Similarly, the genotype XbaI had significant influence on the incidence of the disease with heterozygous genotype of XbaI was 45% higher than wild type in cancerous cases. The menopausal women having heterozygous and homozygous mutants of PvuII or XbaI genotypes were strongly correlated with breast cancer (P<0.01).
The polymorphism of genes involving estrogen-metabolizing pathway and estrogen receptor pathway may play an important role in the etiology of breast cancer in Pakistani women.
癌症发病率和死亡率迅速上升，乳腺癌是全球女性最常见的恶性肿瘤之一。乳腺癌的发生可能与各种社会、文化、环境、生活方式、激素和遗传因素有关。
确定雌激素受体α的 PvuII 和 XbaI 多态性是否使巴基斯坦妇女更容易患乳腺癌。此外，还探讨了乳腺癌与各种因素之间的关系，以确定巴基斯坦人群中乳腺癌的致病因素。
为了评估与疾病发生率相关的因素，在这项病例对照研究中确定了 200 名年龄在 15-65 岁之间的样本，包括 100 名乳腺癌患者和 100 名对照样本。从研究中的每位参与女性收集 5-7 毫升血液样本，并使用 PCR-RFLP 方法分析 PvuII 和 XbaI 的多态性。
绝经对癌症的发病率有很强的影响，与未绝经的女性相比，绝经后女性患乳腺癌的风险增加了 18 倍。此外，绝经年龄（P<0.0001）对癌症的发病率有显著影响，年龄在 36-45 岁之间的患者癌症发病率较高（P<0.0001）。同样，XbaI 基因型对疾病的发病率有显著影响，XbaI 的杂合基因型比野生型高 45%。绝经妇女携带 PvuII 或 XbaI 基因型的杂合和纯合突变与乳腺癌密切相关（P<0.01）。
涉及雌激素代谢途径和雌激素受体途径的基因多态性可能在巴基斯坦妇女乳腺癌的发病机制中起重要作用。
