BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

Cao, Yu-Wen; Fu, Xin-Ge; Wan, Guo-Xing; Yu, Shi-Ying; Cui, Xiao-Bin; Li, Li; Jiang, Jin-Fang; Zheng, Yu-Qin; Zhang, Wen-Jie; Li, Feng

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자료유형: 학술저널

저자정보: Cao, Yu-Wen (Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology) Fu, Xin-Ge (Department of Pathology, The First Affiliated Hospital, Guangzhou Medical University) Wan, Guo-Xing (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases [Ministry of Education], Shihezi University School of Medicine) Yu, Shi-Ying (Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology) Cui, Xiao-Bin (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases [Ministry of Education], Shihezi University School of Medicine) Li, Li (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases [Ministry of Education], Shihezi University School of Medicine) Jiang, Jin-Fang (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases [Ministry of Education], Shihezi University School of Medicine) Zheng, Yu-Qin (Department of Pathology and Key Laboratory of Xinjiang Endemic and Ethnic Diseases [Ministry of) Zhang, Wen-Jie Li, Feng

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제15권 제11호

발행연도: 2014.1

수록면: 4,513 - 4,518 (6page)

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The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

#Uighurs #ethnicity #BRCA1 mutation #early onset #sporadic breast cancer #Xinjiang, China

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Cao, Yu-Wen

소속기관 Department of Pathology and the Key Laboratories for Xinjiang Endemic and Ethnic Diseases [a joint v