Article
Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.
Breast cancer research : BCR - 1 May 2021
Zheng Yuanting, Li Bingying, Pan Dejing, Cao Jun, Zhang Jian, Wang Xiaolin, Li Xiangnan, Hou Wanwan, Bao Ding, Ren Luyao, Yang Jingcheng, Wang Shangzi, Qiu Yangyang, Zhou Fei, Liu Zhiwei, Zhu Sibo, Zhang Lei, Qing Tao, Wang Yi, Yu Ying, Wu Jiaxue, Hu Xichun, Shi Leming
Abstract excerpt
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...
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