Objective: To analyze the mutations of BRCA1 in breast cancer patients of Uigur women in Xinjiang.
Methods: By using single strand conformation polymorphism (SSCP) and DNA sequencing, BRCA1 mutations were detected in 70 Uigur women breast cancer cases and 32 cases of benign breast diseases and non-tumor tissue next to carcinoma.
Results: (1) 12 new loci of BRCA1 gene mutation were detected firstly in 70 Uigur women breast cancer patients. (2)The frequency of BRCA1 mutation in 70 Uigur women breast cancer cases was 12.86% (9/70). The frequency of BRCA1 mutation in Uigur women early onset breast cancer was 31.82% (7/22), which was significantly higher than that in late onset group (2/48, 4.16%) (chi(2) =10.295, P<0.01). (3) There were BRCA1 gene polymorphisms in 9 of 70 Uigur women breast cancer patients. The loci of polymorphisms in 8 of 9 cases were 3232A>G. (4)In the research group two cases of bilateral breast cancer were found with BRCA1 gene mutation.
Conclusion: The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.