[Analysis of the mutation of BRCA1 gene in 70 Uigur women breast cancer patients in Xinjiang].
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.


CONCLUSIONS
The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.
Fu
Xin-ge
XG
Department of Pathology, School of Medicine, Shihezi University, Shihezi, Xinjiang, 832002 PR China.
Li
Feng
F
Wang
Zhen-hua
ZH
Hu
Wen-hao
WH
Mikai
Re-mu
RM
Jiang
Jin-fang
JF
Li
Hong-an
HA
Li
Li
L
Zheng
Yu-qin
YQ
Shen
Xi-hua
XH
Pang
Li-juan
LJ
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational