宁夏地区回族女性散发性乳腺癌易感基因BRCA1/BRCA2突变的研究

BRCA1 and BRCA2 gene mutation in sporadic cases of Hui nationality with breast cancer in Ningxia area

目的研究宁夏地区回族女性散发性乳腺癌中BRCA1/BRCA2基因(breast cancer susceptibility gene 1/2)的突变位点及携带情况。方法收集60例回族居民乳腺癌石蜡包埋组织标本及15例乳腺小叶增生或纤维腺瘤标本。PCR和DNA直接测序法检测BRCA1基因第2、11和20号外显子和BRCA2基因第11号部分外显子突变情况。结果 60例乳腺癌BRCA1基因有10例突变,突变率为16.7%,突变位点均位于BRCA1基因。15例对照均未检出突变且淋巴结转移与未转移组间BRCA1基因突变率差异(30.8%与5.9%)有统计学意义(P<0.05)。结论 BRCA1基因突变可能与宁夏回族女性乳腺癌发生相关。

Objective To detect the prevalence of mutational sites of breast cancer susceptibility gene 1/2（BRCA1 and BRCA2） in the patients of Hui nationality with breast cancer in Ningxia area.Methods Paraffin imbedding and frozen tissues of breast cancer were collected from 60 breast cancer patients of Hui nationality and 15 cases benign breast diseases.The mutations of three exons（2,11 and 20） of BRCA1 gene and one exon（11） of BRCA2 gene were examined by polymerase chain reaction（PCR） and DNA direct sequencing.Results The mutations of BRCA1 gene were found in 10 of 60 cases（16.67%） of breast caner.No mutation was identified in the controls.There was a significant difference of the mutation rate of BRCA1 gene between lymph node metastasis and non-lymph node metastasis groups（P0.05）.Conclusion BRCA1 mutation may play an important role in the risk factors of breast cancer patients of Hui nationality in Ningxia.