Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient

Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient

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 inhibit...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Breast Cancer Research
Subjects:
BARD1
Rare mutation
c.403G>A
p.Asp135Asn
Integrated genomics profiling
Triple-negative breast cancer
Online Access:https://doi.org/10.1186/s13058-021-01428-5

Internet

https://doi.org/10.1186/s13058-021-01428-5

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