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[目的]研究新疆地区维吾尔族及汉族乳腺癌患者BRCA1基因(乳腺癌易感基因1)突变情况及突变位置。[方法]选取维吾尔族及汉族乳腺癌根治标本110例,对照组为32例维吾尔族及汉族乳腺良性病变(纤维腺病及纤维腺瘤)及乳腺癌旁非癌组织;运用PCR-SSCP和DNA序列测定的方法检测BRCA1基因的突变。[结果](1)110例维吾尔族及汉族散发性乳腺癌中BRCA1的突变率为10%;其中70例维吾尔族散发性乳腺癌BRCA1的突变率为12.86%;新疆早发性乳腺癌(≤35岁)中BRCA1基因的突变率高于新疆晚发性乳腺癌,差异有统计学意义(χ2=9.429,P﹤0.01)。维吾尔族早发性乳腺癌BRCA1突变率高于维吾尔族晚发性乳腺癌,差异有统计学意义(χ2=10.295,P﹤0.01)。(2)2例双侧乳腺癌中均检测出BRCA1基因的突变。(3)对照组32例维吾尔族及汉族乳腺癌旁非癌组织及乳腺良性病变中仅发现1例BRCA1基因核苷酸的多态性,110例新疆散发性乳腺癌中发现11例BRCA1基因核苷酸的多态性。[结论]BRCA1突变可能与新疆早发性乳腺癌尤其是维吾尔族早发性乳腺癌及双侧乳腺癌的发生密切相关。
[Objective] To investigate the mutation status and mutation location of BRCA1 gene (Breast Cancer Susceptibility Gene 1) among Uygur and Han nationality in Xinjiang. [Method] A total of 110 Uygur and Han patients with radical mastectomy were enrolled in this study. The control group consisted of 32 Uygur and Han patients with benign breast lesions (fibroadenosis and fibroadenoma) and non-cancerous breast tissues. PCR-SSCP and DNA Sequence Determination of BRCA1 gene mutations detected. [Results] (1) The mutation rate of BRCA1 in 110 cases of Uygur and Han sporadic breast cancer was 10%. The mutation rate of BRCA1 in 70 cases of Uyghur sporadic breast cancer was 12.86%. In Xinjiang cases of early breast cancer (≤ 35 years old), the mutation rate of BRCA1 gene was higher than that of late-stage breast cancer in Xinjiang (χ2 = 9.429, P <0.01). The mutation rate of BRCA1 in Uighur early-onset breast cancer is higher than that of Uighur late-stage breast cancer (χ2 = 10.295, P <0.01). (2) Mutations of BRCA1 gene were detected in 2 cases of bilateral breast cancer. (3) Only one case of BRCA1 nucleotide polymorphism was found in 32 cases of non-cancerous tissues of breast cancer and benign breast lesions in 32 cases of Uygur and Han controls. Eleven cases of BRCA1 gene were found in 110 cases of sporadic breast cancer in Xinjiang Polymorphism of the nucleotide. [Conclusion] The mutation of BRCA1 may be closely related to the occurrence of early-onset breast cancer in Xinjiang, especially of Uighur early-onset breast cancer and bilateral breast cancer.