Although several studies detected the BRCA1 germ-line mutations in Chinese women with familial breast cancer, most of them did not employed conventional full gene sequencing, especially in eastern China. In this study, we screened the complete coding regions and exon-intron boundaries of BR-CA1 by polymerase chain reaction (PCR)-sequencing assay. One hundred and twenty breast cancer patients having one or more affected relatives referred from the Zhejiang Cancer Hospital, eastern China during 2008~2011 were selected for the study. A total of 62 familial breast cancer patients received the BRCA1 germ-line mutation screening. Five deleterious mutations were detected in this cohort. The mutation rate was 11.3％ (7/62). We found 2 novel mutations (3414delC and 5280 C>T) and 2 recurrent mutations (5273 G>A and 5589del8). BRCA1 mutation tumors tended to be negative for ER, PR and HER-2, and exhibited high histological grade compared with tumors without BRCA1 mutations. Our study suggests that recurrent mutations may exist in eastern Chinese women with familial breast cancer and PCR-se-quencing assay is a useful tool to screen these mutations. The study also suggests that BRCA1-associated breast cancer in Chinese women exhibit an aggressive phenotype.