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Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer

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Abstract

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.

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Acknowledgments

This study was supported by the grant from the National Natural Science Foundation of China (No. 81071629), and the Program for Breast Cancer Tissue Bank of Beijing.

Conflict of interest

None.

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Authors and Affiliations

  1. Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, 100142, People’s Republic of China

    Min Zhang, Ye Xu, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin & Yuntao Xie

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  1. Min Zhang
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  2. Ye Xu
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  3. Tao Ouyang
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  4. Jinfeng Li
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  5. Tianfeng Wang
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  6. Zhaoqing Fan
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  7. Tie Fan
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  8. Benyao Lin
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  9. Yuntao Xie
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Corresponding author

Correspondence to Yuntao Xie.

Additional information

Min Zhang and Ye Xu contributed equally to this study.

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Zhang, M., Xu, Y., Ouyang, T. et al. Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer. Breast Cancer Res Treat 132, 335–340 (2012). https://doi.org/10.1007/s10549-011-1887-2

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  • DOI: https://doi.org/10.1007/s10549-011-1887-2

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