| Autor: |
Yuanting Zheng, Bingying Li, Dejing Pan, Jun Cao, Jian Zhang, Xiaolin Wang, Xiangnan Li, Wanwan Hou, Ding Bao, Luyao Ren, Jingcheng Yang, Shangzi Wang, Yangyang Qiu, Fei Zhou, Zhiwei Liu, Sibo Zhu, Lei Zhang, Tao Qing, Yi Wang, Ying Yu, Jiaxue Wu, Xichun Hu, Leming Shi |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Breast Cancer Research, Vol 23, Iss 1, Pp 1-7 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1465-542X |
| DOI: |
10.1186/s13058-021-01428-5 |
| Popis: |
Abstract We identified a rare missense germline mutation in BARD1 (c.403G>A or p.Asp135Asn) as pathogenic using integrated genomics and transcriptomics profiling of germline and tumor samples from an early-onset triple-negative breast cancer patient who later was administrated with a PARP inhibitor for 2 months. We demonstrated in cell and mouse models that, compared to the wild-type, (1) c.403G>A mutant cell lines were more sensitive to irradiation, a DNA damage agent, and a PARP inhibitor; (2) c.403G>A mutation inhibited interaction between BARD1 and RAD51 (but not BRCA1); and (3) c.403G>A mutant mice were hypersensitive to ionizing radiation. Our study shed lights on the clinical interpretation of rare germline mutations of BARD1. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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