维吾尔族及汉族早发性乳腺癌 BRCA1基因突变分析

目的研究维吾尔族及汉族早发性乳腺癌患者BRCA1突变情况及突变位置。方法选取35例维吾尔族及汉族早发性乳腺癌根治标本（其中维吾尔族早发性乳腺癌22例，汉族乳腺癌13例），对照组为32例维汉族乳腺良性病变（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基因突变。结果（1）35例新疆早发性乳腺癌（≤35岁）BRCA1突变率为22．86％（8／35），22例维吾尔族早发性乳腺癌BRCA1突变率为31．82％（7／22）。（2）35例新疆早发性乳腺癌中发现8例BRCA1突变的12个新位点，其中2例突变位点IVS20-68insA均为维吾尔族早发性乳腺癌患者。（3）35例新疆早发性乳腺癌中发现7例BRCA1基因核苷酸多态性，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。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密切相关，其突变位点IVS20—68insA可能是新疆维吾尔族早发性乳腺癌的遗传易感性位点，尚需扩大样本进一步研究证实。

Mutation analysis of BRCA1 genes in Uigur and Han women with breast carcinoma of early onset

Purpose To analyze the mutations of BRCA1 in 35 cases of Uigur and Han women with early onset breast carcinoma. Methods Using single strand conformational polymorphism (SSCP) and DNA sequencing, BRCA1 mutation was detected in 22 cases of Uigur females and 13 Han with early onset breast carcinoma and 32 cases of benign breast diseases and non-tumor tissue adjacent to carcinoma.Results (1) The frequency of BRCA1 mutation was 22.86% in 35 cases of Uigur and Han women with early onset breast carcinoma, and 31.82% in 22 cases of Uigur women with early onset breast carcinoma. (2) 12 new loci of BRCA1 gene mutation were detected firstly in this group of breast cancers, in which 2 cases of the mutated loci IVS20-68insA were detected in Uigur women with early onset breast carcinoma. (3) There were BRCA1 gene polymorphisms in 7 of 35 cases of the breast carcinoma, and 1 of 32 cases benign breast diseases and non-tumor tissue adjacent to carcinoma. Conclusions Mutation of BRCA1 gene may be related to early onset of breast carcinoma in Uigur women. IVS20-68insA may be a genetic susceptible spot in early-onset breast carcinoma in Xinjiang, and more samples are needed to confirm the results.