中文摘要：

目的研究新疆乳腺癌病例对照,探讨新疆乳腺癌患者的危险因素及P16基因和RASSF1A基因在乳腺癌患者血浆中的异常甲基化情况,为新疆乳腺癌的预防、早期检测及预后提供理论依据。方法按照1∶1配比的病例对照研究,采用聚合酶链式反应（PCR）对57例乳腺癌患者和57名健康者外周血中的抑癌基因RASSF1A及P16基因扩增,并进行焦磷酸测序,检测该基因的甲基化情况。结果经单因素分析,RASSF1A基因PM00104139区域的CpG-2、CpG-3、CpG-4和CpG-5在病例组和对照组中甲基化率差异有统计学意义（P〈0.05）;以ER阴性阳性分组,P16甲基PM00139972区域CpG-2差异有统计学意义（P〈0.05）;以HER-2阴性阳性分组,P16甲基PM00139972区域CpG-4差异有统计学意义（P〈0.05）。结论通过对新疆乳腺癌患者P16基因及RASSF1A基因各位点的检测,其异常甲基化对新疆乳腺癌的预后和早期预防可能有意义。

英文摘要：

Objective To investigate the risk factors in breast cancer in Xinjiang and the aberrant methylation of RASSFIA gene and P16 gene in the plasma of patients with breast cancer. Methods Case-control 1 ： 1 was adopted and the tumor suppressor gene RASSF1A and P16 gene were amplified from 57 cancer patients and 57 healthy individuals. Pyrosequencing was carried out to detect for methylation of the gene by polymerase chain reaction （PCR） in the peripheral blood of 57 pa- tients with breast cancer. Results Univariate analysis showed that the difference in methylation degree of RASSF1,4 PM00104139CpG-2, CpG-3, CpG-4, CpG-5 was statistically significant （P〈0.05）. The difference in methylation degree of P16 PM00139972CpG-2 was statistically significant according to the ER-negative-positive group （P〈0.05）. The difference in methylation degree of P16 PM00139972CpG-4 was statistically significant according to the HER-2-negative-positive group （P〈0.05）. Conclusions Detecting the abnormal mathylation of each P16 gene and RASSF1.4 gene in Xinjiang breast can- cer patients is of important significance for the prognosis and early prevention of breast cancer.