蒙汉族散发性乳腺癌患者BRCA1基因exon11突变分析

Analysis of exon11 mutation of BRCA1 gene in sporadic breast cancer patients of Mongolian and Han nationality

目的分析内蒙古地区散发性蒙汉族乳腺癌患者的BRCA1基因外显子(exon11)测序结果,为乳腺癌的防治提供参考。方法选定内蒙古地区蒙汉族散发性乳腺癌患者103例作为研究对象,采用PCR SSCP(Single strand conformation polymorphism,SSCP)即聚合酶链反应-单链构象多态性分析、基因测序方法检测RCA1基因exon11,统计分析BRCA1基因exon11突变情况。结果在103例散发性乳腺癌中,在BRCA1基因exon11上共发现2例突变(1例为W372X无义突变,另1例为2073delA移码突变)。结论内蒙古地区汉族散发性乳腺癌中BRCA1基因exon11发现2例突变,均已收录于美国国立生物技术信息中心(NCBI)数据库中,目前国内尚无有关中国汉族人群中可能具有部分始祖效应的突变位点的文献报道;BRCA1突变全部发生在三阴性乳腺癌(Triple negative breast cancer,TNBC)患者中,可能与TNBC的发生、临床分期和发展有关。

Objective To analyze the exonl I sequencing results of BRCAI gene in patients of Mongolian and Han nationality with sporadic breast cancer in Inner Mongolia, to provide reference for the prevention and treatment of breast cancer. Methods Totally 103 cases of sporadic breast cancer of Mongolian and Han nationality in Inner Mongolia were selected. As the study subjects,PCR SSCP （Single strand conformation polymorphism） and gene sequencing technology were used to detect the exonl I of RCAI gene. The situation of BRCAI gene mutation was statistically analyzed. Results Two mutations were found on exonl I of BRCAI gene in the 103 cases of sporadic breast cancer in Inner Mongolia. These 2 cases of mutation were 2073delA frameshift mutation and W372X nonsense mutation. Conclu- sion Two cases of BRCAI gene exon 11 mutations have been found included in the National Center for Biotechnology Information （NCBI） database. At present,there are no report of mutation sites that may have partial ancestral effects in Chinese Han nationality. BRCAI mutations all occur in triple negative breast cancer （TNBC） cases, which may be related to the occurrence and clinical status and development of TNBC.