摘要
采用ＰＣＲ－ＳＳＣＰ方法，研究了９例人原发性乳腺癌和２０例肺癌中ＢＲＣＡ１基因外显子２及外显子２１区域上的突变情况。结果显示：３例乳腺癌存在突变（３／９），其中１例发生于外显子２，２例发生在外显子２１上；１例肺癌在外显子２上发生突变（１／２０，５％），该结果表明ＢＲＣＡ１基因突变与乳腺癌关系密切，同时该结果首次发现ＢＲＣＡ１基因突变可能与肺癌发生有关，但所有这些结果尚需进一步的序列分析证实。
reast cancer gene 1 (BRCA1) is a breast cancer suppressor gene which was recently cloned and sequenced by Skolnick team. This group also reported BRCA1 mutations in pri- mary breast and ovarian carcinoma. In this article , PCR -single strand conformation poly- morphism analysis was performed on 9 cases of human primary breast cancer , 20 cases of lung cancer and their adjacent normal tissue , in an attempt to detect mutations within BR- CA1 gene exon 2 and exon 21. Mutations were found in 3 cases of breast cancer , 1 in exon 2 and 2 in exon 21. Among 20 cases of lung cancers mutation was also observed in exon 2 in 1 case. The results suggested that the BRCA1 gene mutation is an important event in primary breat cancers. Meanwhile , it also implies that the BRCA1 gene may be related to lung can- cer. But all the results must be further proved by DNA sequencing.
出处
《中山医科大学学报》
CSCD
1996年第2期95-98,共4页
Academic Journal of Sun Yat-sen University of Medical Sciences
基金
广东省博士后科研基金
关键词
乳腺肿瘤
遗传学
肺肿瘤
基因
抑制
突变
breast neoplasms/genetics
lung neoplasms/genetics
genes , sup- pressor , tumor
mutation
