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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088670/
https://www.ncbi.nlm.nih.gov/pubmed/33933153
http://dx.doi.org/10.1186/s13058-021-01428-5

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