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The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified 期刊论文

编号：

9740d29c-fa36-4880-9e5f-b18484bf6d61
作者：

Li, WenFeng^[1,2] Hu, Zhen^[1] Rao, NanYan^[1] Song, ChuangGui^[1] Zhang, Bin^[3] Cao, MingZhi^[4] Su, FengXi^[5] Wang, YongSheng^[6] He, PingQing^[7] Di, GenHong^[1] Shen, KunWei^[1] Wu, Jiong^[1] Lu, JinSong^[1] Luo, JianMin^[1] Liu, XiaoYi^[4] Zhou, Jie^[5] Wang, Lei^[6] Zhao, Lin^[3] Liu, YanBing^[6] Yuan, WenTao^[8] Yang, Lin^[8] Shen, ZhenZhou^[1] Huang, Wei^[8] Shao, ZhiMing^[1]
语种：

English
期刊：

BREAST CANCER RESEARCH AND TREATMENT ISSN：0167-6806 2008 年 110 卷 1 期 (99 - 109) ; JUL
收录：
关键词：

breast cancer BRCA1 BRCA2 mutation Chinese founder effect
摘要：

To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-DNA sequencing analysis. Allelotype analysis was done at five short tandem repeat (STR) markers in or adjacent to BRCA1 on the recurrent mutation carriers. For those analyzed both genes, 8.7% of early-onset breast cancer cases and 12.9% of familial breast cancer cases had a BRCA1 or BRCA2 mutation, as compared with the 26.1% of cases with both early-onset breast cancer and affected relatives. For those reporting malignancy family history other than breast/ovarian cancer, the prevalence of BRCA1/2 mutation is about 20.5%, and it was significantly higher than the patients only with family history of breast/ovarian cancer (P = 0.02). The family history of ovarian cancer (26.7% vs. 11.9%) and stomach cancer (23.8% vs. 11.8%) doubled the incidence of BRCA1/2, but the difference did not reach the statistical significance. Two recurrent mutations in BRCA1, 1100delAT and 5589del8, were identified. The recurrent mutations account for 34.8% BRCA1 mutations in our series. Similar allelotypes were detected in most STR status for those harboring the same mutations. The BRCA1 associated tumors were more likely to exhibit a high tumor grade, negative C-erbB-2/neu status and triple negative (ER, PgR and C-erbB-2/neu negative) status (P < 0.05). We recommended the BRCA1 and BRCA2 genetic analysis could be done for high-risk breast cancer patient in Chinese population, especially for those with both early-onset breast cancer and affected relatives. There may be some degree of shared ancestry for the two recurrent BRCA1 mutations in Chinese.
推荐引用方式
GB/T 7714：

Li Wen-Feng,Hu Zhen,Rao Nan-Yan, et al. The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified [J].BREAST CANCER RESEARCH AND TREATMENT,2008,110(1):99-109.
APA：

Li Wen-Feng,Hu Zhen,Rao Nan-Yan,Song Chuang-Gui,&Shao Zhi-Ming.(2008).The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified .BREAST CANCER RESEARCH AND TREATMENT,110(1):99-109.
MLA：

Li Wen-Feng, et al. "The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified" .BREAST CANCER RESEARCH AND TREATMENT 110,1(2008):99-109.

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