汉族散发性乳腺癌患者BRCA1基因突变的研究

Analysis of the mutation of BRCA1 gene in 55 Sporadic women breast cancer patients in Ningxia

目的研究宁夏地区汉族乳腺癌患者BRCA1基因突变情况及突变位置。方法抽取已经确诊55例乳腺癌患者的外周血标本,对照组为30例健康女性查体的外周血标本,应用PCR法(聚合酶链反应)和DNA序列直接测定的方法检测BRCA1基因突变。结果(1)55例乳腺癌BRCA1的突变率9.09%(5/55),其中17例早发性乳腺癌(≤35岁)BRCA1突变率23.53%(4/17),高于晚发性乳腺癌基因突变率的2.63%(1/38),差异有统计学意义(χ2=3.94,P<0.05);(2)5例BRCA1基因突变的乳腺癌中有3例ER、PR、人表皮生长因子受体2(HER-2)均为阴性,即三阴乳腺癌,其比例为60%(3/5),而非BRCA1突变的乳腺癌中三阴比例为10.00%(5/50),差异有统计学意义(χ2=5.56,P<0.05);BRCA1基因突变相关性乳腺癌淋巴结转移率为100%(5/5),高于非BRCA1基因突变相关性乳腺癌62%(31/50),差异有统计学意义(χ2=5.56,P<0.05)。结论BRCA1突变可能与宁夏地区汉族散发性乳腺癌尤其是早发性乳腺癌的发生密切相关,并与三阴乳腺癌有密切关系,且提示预后可能较差。

Objective To analyze the mutations of BRCA1 in patients with breast cancer in Ningxia. Methods By using polymerase chain reaction and direct DNA sequencing, BRCA1 mutations were detected in 55 women breast cancer cases and 30 cases of benign breast diseases. Results The frequency of BRCA1 mutation in 55 women breast cancer cases was 9. 09 % （5/55）. The frequency of BRCA1 mutation in women early onset breast cancer was 23.53 % （4/17）, which was higher than that in late onset group （ 1/38, 2. 36 % ） （χ2 = 3.94, P 〈0. 05 ） ; The frequency of estrogen receptor, progesterone receptor and human epidermal growth factor receptor negative （called triple -negative breast cancer） of BRCA1 mutation was 60% （3/5）, which was higher than those in non BRCA1 mutation related breast cancer was 10.00% （5/50） （ χ2 = 5.56, P 〈 0.05 ）, BRCA1 gene mutation - related breast cancer lymph node metastasis rate was 100% （5/5）, higher than the non BRCA1 - related breast cancer gene mutation 62% （31/50） （χ2 = 5.56, P 〈 0.05）. Conclusion The mutation of BRCA1 gene may be related to women breast cancer and early onset breast cancer, and also related with triple -negative breast cancer, and perhaps indicated poor prognosis.