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学科主题: 临床医学
题名:
Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer
作者: Zhang, Min; Xu, Ye; Ouyang, Tao; Li, Jinfeng; Wang, Tianfeng; Fan, Zhaoqing; Fan, Tie; Lin, Benyao; Xie, Yuntao
关键词: BRCA1 ; Somatic mutation ; Chinese women ; Sporadic breast cancer
刊名: BREAST CANCER RESEARCH AND TREATMENT
发表日期: 2012-02-01
DOI: 10.1007/s10549-011-1887-2
卷: 132, 期:1, 页:335-340
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology
研究领域[WOS]: Oncology
关键词[WOS]: OVARIAN-CANCER ; GERMLINE MUTATIONS ; EPIDEMIOLOGY ; POLYMERASE ; CELLS ; TUMOR
英文摘要:

Recent studies suggested that breast cancer patients who carry a BRCA1 germline mutation benefit from poly (ADP-ribose) polymerase (PARP) inhibitors; therefore, it would be of great interest to detect BRCA1 somatic mutations in sporadic breast cancers. In this study, we detected BRCA1 somatic mutations in tumor cDNA from 144 Chinese women with sporadic breast cancer by using polymerase chain reaction (PCR)-direct sequencing assay. In total, eight BRCA1 alterations (three nonsense mutations and five missense mutations) were identified in this cohort of 144 sporadic breast cancers. We further confirmed that 5 out of 144(3.5%) sporadic breast cancer cases carried a BRCA1 somatic mutation, including two novel nonsense mutations (c.191_212del22 and c.2963C > G) resulting in a truncated protein and three missense mutations (c.114G > T, c.925A > C, and c.824G > A). The two cases with BRCA1 somatic truncating mutations also contained a TP53 somatic mutation in the tumors. Our study suggested that a small subset of sporadic breast cancers do harbor BRCA1 somatic mutations; these patients who carry a BRCA1 somatic mutation may be potential candidates for treatment with PARP inhibitors.

语种: 英语
所属项目编号: 81071629
项目资助者: National Natural Science Foundation of China ; Program for Breast Cancer Tissue Bank of Beijing
WOS记录号: WOS:000300278400034
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57010
Appears in Collections:北京大学临床肿瘤学院_乳腺癌预防治疗中心_期刊论文

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作者单位: Peking Univ, Breast Ctr, Beijing Canc Hosp & Inst,Canc Hosp, Key Lab Carcinogenesis & Translat Res,Minist Educ, Beijing 100142, Peoples R China

Recommended Citation:
Zhang, Min,Xu, Ye,Ouyang, Tao,et al. Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer[J]. BREAST CANCER RESEARCH AND TREATMENT,2012,132(1):335-340.
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