散发性乳腺癌患者BRCA1基因突变检测

BRCA1 gene mutation detection in sporadic breast cancer patients

目的:研究散发性乳腺癌患者中,乳腺癌易感基因-1(BRCA1)的突变情况,并探讨其临床意义。方法:采用聚合酶链反应-单链构像多态性分析(PCR-SSCP)、标记染色双脱氧末端法DNA测序,对27例散发性乳腺癌患者以及正常对照组8例进行BRCA1基因全序列外显子突变检测。结果:27例患者中发现1例第16外显子基因突变,突变率为3.7%(1/27例);突变形式为4804C→G,突变结果引起单个氨基酸改变,使编码子1562由精氨酸代替脯氨酸。结论:在散发性乳腺癌患者中BRCA1基因突变率较低(3.7%),BRCA1可能通过突变以外的调节方式起作用。

Objective： To study the mutations of BRCA1 gene in sporadic breast cancer patients and analyze its clinical significance. Methods： Using polymerase chain reaction-single stranded conformation polymorism （PCR-SSCP） and subsequent DNA sequencing, the mutations of all 22 exons of BRCA 1 gene in 27 sporadic breast cancer patients and 8 matched control people were analyzed. Results： One mutation （4804 C→G） in 16th exon was found in one of 27 sporadic breast cancers, which resulting in single amino acid change in 1562（P→R）. Conclusion： Our study proves the mutations of BRCAI were low in sporadic breast cancer （3.7%）, and suggests that BRCA 1 play a role in sporadic breast cancers by any patterns except gene mutations.