Breast Cancer Research and Treatment   2016 年 158 卷 3 期

2016.08.01

We determined the prevalence and characteristics of BRCA1/2 germline mutations in a large cohort of Chinese women with breast cancer. A total of 5931 unselected Chinese women with breast cancer were enrolled in this study and underwent testing for BRCA1/2 mutations. Of these, 543 patients were familial breast cancer, 1033 were early-onset disease (?‰¤40??years) without family history of breast cancer, and 4355 were sporadic breast cancer. In total, 232 patients (3.9??%) carried a BRCA1 or BRCA2 mutation (110 in BRCA1and 122 in BRCA2) in this cohort of 5931 patients. BRCA1/2 mutation rate was 16.9??% (92/543) in familial breast cancers, 5.2??% (54/1033) in early-onset breast cancers (?‰¤40??years), and 2.0??% in sporadic breast cancers (>40??years), respectively. The BRCA1/2 mutation rate was 27.0??% in 111 familial breast cancers diagnosed at and before the age of 40. 41.4??% of mutations in this cohort were specific for Chinese population. Recurrent mutations accounted for 44.8??% of the entire mutations in 2382 cases that BRCA1 and BRCA2 genes were fully sequenced in this study. Both BRCA1 and BRCA2 mutation carriers were significantly more likely to be early-onset and bilateral breast cancers, high-grade cancer, and to have a family history of breast cancer compared with non-carriers. BRCA1 mutation carriers were more likely to be triple-negative cancer than BRCA2 mutation carriers and non-carriers. Our data provide guidelines for Chinese women with breast cancer who should undergo BRCA1/2 genetic testing; additionally, recurrent mutations account for nearly half of the mutations and some of them are specific for Chinese women.