肿瘤防治研究2017，Vol.44Issue(9)：622-626,5.DOI:10.3971/j.issn.1000-8578.2017.17.0251
乳腺癌BRCA1/2基因大片段重排的研究进展
Advances of BRCA1/2 Large Rearrangement in Breast Cancer
张冬洁 1孟桦 1解云涛1
作者信息
- 1. 102206北京,北京大学国际医院乳腺外科
- 折叠
摘要
Abstract
Breast cancer is the most frequent female malignant tumor.BRCA1 and BRCA2 genes are important susceptibility genes of breast cancer.Mutations in BRCA1/2 genes lead to an increased risk of breast cancer in life-span.The most common mutations in BRCA1/2 genes are frameshift and nonsense mutations involving in one or several bases by Sanger-sequencing.However,large rearrangements of BRCA1/2 genes are hardly detected by conventional Sanger-sequencing.With the progress of gene detection technology,multiple BRCA1/2 gene rearrangements have been found,we need to take the large rearrangement into consideration when no mutation is found in traditional BRCA1/2 gene sequencing on the family of hereditary breast cancer,in order to avoid missed diagnosis.关键词
乳腺癌/BRCA1/BRCA2/基因重排Key words
Breast cancer/BRCA1/BRCA2/Gene rearrangement分类
医药卫生引用本文复制引用
张冬洁,孟桦,解云涛..乳腺癌BRCA1/2基因大片段重排的研究进展[J].肿瘤防治研究,2017,44(9):622-626,5.
