军事医学2017，Vol.41Issue(5)：398-401,4.DOI:10.7644/j.issn.1674-9960.2017.05.016
74例早发性乳腺癌患者BRCA1和BRCA2基因致病突变研究
BRCA1 and BRCA2 pathogenic mutations in 74 patients with early-onset breast cancer
摘要
Abstract
Objective To investigate the pathogenic mutations of BRCA1 and BRCA2 in patients with early-onset breast cancer(≤35 years) and explore the relationships between BRCA1/2 mutations and clinical features.Methods Seventy-four patients with early-onset breast cancer were enrolled,who were treated in Hospital 307 between September 2014 and June 2016.High-throughput sequencing was used to test the 49 exon sequences and adjacent sequences of BRCA1 and BRCA2.χ2 test was used to analyze the distribution of BRCA1/2 pathogenic mutations in each group that was set up according to clinical features.Results Fifteen mutations(20.27%) were identified,including 5(6.76%) in BRCA1 and 10(13.51%) in BRCA2.Eleven new pathogenic mutations were discovered,and BRCA1:c.5470_5477delTGCCCAAT was found in one patient.The frequency of BRCA1/2 mutations in the group with a family history of breast cancer or ovarian cancer was higher than in the group without a family history (40.91% vs 11.54%) (χ2=6.534,P=0.011).Conclusion BRCA1/2 pathogenic mutation is significant for early-onset breast cancer,especially for those with a family history of breast or ovarian cancer.The new mutations may be specific to Chinese people.BRCA1:c.5470_5477delTGCCCAAT may be the ancestor mutation among the Chinese.关键词
乳腺肿瘤/乳腺癌易感基因1/乳腺癌易感基因2/突变Key words
breast neoplasms/BRCA1/BRCA2/mutation分类
医药卫生引用本文复制引用
杨柳春,公彦栋,曹诚,黄焰,刘晓静,靳彦文,进淑娟,韩小伟,庞汉民,李建鹏,孟迪,左思..74例早发性乳腺癌患者BRCA1和BRCA2基因致病突变研究[J].军事医学,2017,41(5):398-401,4.基金项目
中国健康促进基金 （）
军事医学科学院创新基金资助项目(2013ZHYX012) （2013ZHYX012）
