To explore the mutation spectrum of breast and ovarian cancer susceptibility gene 1/2 (BRCA1/2) which was related to breast cancer in female residents of Wuhan, and assess the relation of gene mutation and risk of suffering breast cancer.

128 cases of female individuals, including 58 cases of breast cancer after surgery, 70 cases of benign breast disease， and 50 femal healthy volunteers were selected by simple randon sampling from Department of Breast Surgery of Renmin Hospital of Wuhan University.BRCA1/2 gene was sequenced and compared with the standard template sequence to explore the possible mutations.

In the breast cancer group, mutation emerged in 11 cases and the mutation rate was 19.0% (11/58), including 8 cases of the BRCA1 gene mutations (3 cases of 185 del AG, 5 case of 5382 ins C) and 3 cases of the BRCA2 gene mutations (2 cases of 6174 del T, 1 case of C5773T); in the benign breast disease group, mutation emerged in 5 cases, the mutation rate was 7.1% (5/70), including 4 cases of the BRCA1 gene mutations (1 case of 185 del AG, 3 cases of 5382 ins C), and 1 case of the BRCA2 gene mutation (6174 del T).There was no mutation detected in healthy control group.The mutation rate of the breast cancer group was significantly higher than that of benign breast disease group and healthy control group (χ²=4.05, 10.56，P<0.05); However, there was no significant difference between benign breast disease group and healthy control group (χ²=3.73，P>0.05).

The mutation of BRCA1 gene (185 del AG, 5382 ins C) and BRCA2 gene (6174 del T, C5773T) is in the presence of female residents in Wuhan.Furthermore，the mutation in BRCA1/2 gene increases the risk of breast cancer.(Chin J Lab Med, 2012,35:1006-1009)

Breast neoplasms; Gene, BRCA1; Gene, BRCA2; Risk assessment