摘要
目的研究BRCA1基因在散发性乳腺癌中的突变情况,探讨BRCA1基因突变与乳腺癌的关系。方法应用PCRSSCP(singlestrandconformationpolymorphismanalysis)分析和DNA直接测序法,检测65例散发性乳腺癌BRCA1第2,3,5,8,10,12,13,14,15,16,17,18,19,20和21外显子基因突变情况。结果65例中共检测出4例突变,其中1例为5外显子的错义突变(287A>T),1例为12外显子的错义突变(4285G>A),1例为17外显子的错义突变(5115T>C),1例为18外显子的错义突变(5206T>A)。乳腺癌BRCA1的基因突变率为6.2%(4/65)。结论BRCA1基因突变与散发性乳腺癌有密切关系。
Objective To screen BRCA1 gene mutation in sporadic breast cancer. Methods Mutational screening on fragments of exon 2 , 3, 5, 8, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20 and 21 of BRCA1 gene in 65 cases of sporadic breast cancer was performed by PCR-SSCP（ single-strand conformation polymorphism analysis）, and alterations were confirmed by DNA sequencing. Results A total of 4 single nu- cleotide changes in BRCA1 were identified, including 1 missense mutations in exon 5 （287 A〉T）, 1 missense mutation in exon 12（4 285 G〉A）, 1 missense mutations in exon 17（5 115 T〉C）, and 1 missense mutations in exon 18 （5 206 T〉 A ）, the mutation rate was 6. 2% （4/65）. Conclusion Mutations in BRCA1 is closely related to sporadic breast cancer.
出处
《肿瘤防治研究》
CAS
CSCD
北大核心
2005年第9期533-535,共3页
Cancer Research on Prevention and Treatment
基金
广西自然科学基金资助项目(桂科自0007029)
