学科主题临床医学
Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer
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
2012-02-01
DOI10.1007/s10549-011-1887-2
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
WOS记录号WOS:000300278400034
项目编号81071629
资助机构National Natural Science Foundation of China ; Program for Breast Cancer Tissue Bank of Beijing
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57010
专题北京大学临床肿瘤学院_乳腺癌预防治疗中心
北京大学临床肿瘤学院_乳腺中心实验室
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
推荐引用方式
GB/T 7714
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.
APA Zhang, Min.,Xu, Ye.,Ouyang, Tao.,Li, Jinfeng.,Wang, Tianfeng.,...&Xie, Yuntao.(2012).Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.BREAST CANCER RESEARCH AND TREATMENT,132(1),335-340.
MLA Zhang, Min,et al."Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer".BREAST CANCER RESEARCH AND TREATMENT 132.1(2012):335-340.
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