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背景与目的:乳腺癌是基因环境交互作用的复杂疾病,高共显的易感基因突变与家族性乳腺癌密切相关。本研究旨在探讨新疆地区维、汉民族女性散发性乳腺癌患者BARD1基因突变情况及突变位置,以期为后续研究奠定基础。方法:随机选取维、汉民族妇女散发性乳腺癌各30例,收集临床病理资料及癌组织与血液标本。应用启动子和外显子测序的方法检测BARD1基因突变,并在血液样本中测序来验证上述结果。结果:⑴维族和汉族散发性乳腺癌患者在生育史上差异有统计学意义,且维族有很大比例为非雌激素依赖性乳腺癌。⑵维族散发性乳腺癌患者BARD1基因突变率为33.3%,而汉族为13.8%,但差异无统计学意义(χ2=3.11,P=0.07)。新发现的14个低频SNP全部位于非编码区。⑶血液验证除一个位点rs28997575外,其余43个全部一致,提示突变为生殖细胞突变。结论:维、汉民族的乳腺癌类型有差异,治疗也应区别对待。BARD1基因突变在维族乳腺癌患者中作用可能大于汉族患者,机制可能是增加了乳腺癌易感性。
BACKGROUND & OBJECTIVE: Breast cancer is a complex disease in the interaction of gene environment. Highly co-dominant susceptibility mutations are closely related to familial breast cancer. The purpose of this study was to investigate the mutation status and location of BARD1 gene in women with sporadic breast cancer in Uighur and Han nationality in Xinjiang in order to lay a foundation for the follow-up study. Methods: Thirty cases of sporadic breast cancer were randomly selected from Han nationality women. Clinicopathological data and cancer tissues and blood samples were collected. BARD1 gene mutations were detected using promoter and exon sequencing and were sequenced in blood samples to verify the above results. Results: (1) Uygur and Han sporadic breast cancer patients in the history of childbearing difference was statistically significant, and a large proportion of Uygur non-estrogen-dependent breast cancer. ⑵ Uighur sporadic breast cancer patients with BARD1 gene mutation rate was 33.3%, while the Han was 13.8%, but the difference was not statistically significant (χ2 = 3.11, P = 0.07). The newly discovered 14 low-frequency SNPs are all located in the non-coding region. ⑶ blood test in addition to a site rs28997575, the remaining 43 are all consistent, suggesting that mutations into germ cell mutations. Conclusion: There are differences in the types of breast cancer between Victoria and Han ethnic groups, and treatment should be treated differently. BARD1 gene mutation in Uighur breast cancer patients may be greater than Han patients, the mechanism may be increased breast cancer susceptibility.