BRCA1 and BRCA2 pathogenic mutations in 74 patients with early-onset breast cancer
10.7644/j.issn.1674-9960.2017.05.016
- VernacularTitle:74例早发性乳腺癌患者BRCA1和BRCA2基因致病突变研究
- Author:
Liuchun YANG
;
Xiaojing LIU
;
Yanwen JIN
;
Shujuan JIN
;
Xiaowei HAN
;
Hanmin PANG
;
Jianpeng LI
;
Di MENG
;
Si ZUO
;
Yandong GONG
;
Cheng CAO
;
Yan HUANG
- Keywords:
breast neoplasms;
BRCA1;
BRCA2;
mutation
- From:Military Medical Sciences
2017;41(5):398-401
- CountryChina
- Language:Chinese
-
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.
