BRCA1/2 gene mutations of sporadic breast cancer patients in Uygur and Han populations
- VernacularTitle:维吾尔族和汉族散发性乳腺癌患者BRCA1／2基因突变的检测
- Author:
Wen WANG
;
Zhiping MA
;
Abulajiang GULINAER
;
Wei ZHANG
- Keywords:
sporadic breast cancer;
BRCA1/2 gene;
mutation;
DNA seguencing
- From:
Basic & Clinical Medicine
2017;37(1):50-55
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the prevalence of BRCA1/2 gene mutations among Uygur and Han sporadic breast cancer patients in Xinjiang Uygur Automous.Methods Polymerase chain reaction ( PCR) and DNA se-quencing was used to detect mutations of BRCA1(exons 2, 11(11A and 11B) and 20) and BRCA2(exon 11) genes in the Paraffin imbedding tissues from 230 sporadic breast cancer patients ( 115 Uygur and 115 Han ) in Xinjiang Uygur Automous.Results In the 230 cases of sporadic breast cancer patients, 16 cases have gene mu-tation ( 16/230 ,6.96%) .One case of BRCA1 gene in 16 cases of mutations -5 382 locus mutation and 7 cases of new mutations.There was 2 germline mutation in exon 11 of BRCA2 gene.BRCA gene mutation rates of Uygur and Han patients were 7.83% ( 9/115 ) and 6.09% ( 7/115 ) .The onset age of mutations group were 50 or less.Mutations group of patients with amenorrhea ( 3 ) were less than whom were premenopausal ( 13 ) ( P <0.05 ) .Conclusions The prevalence of BRCA1 mutations was significantly higher than BRCA2 in sporadic breast cancer patients of Xinjiang.
