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

Overview of attention for article published in Breast Cancer Research, May 2021
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Title
Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient
Published in
Breast Cancer Research, May 2021
DOI 10.1186/s13058-021-01428-5
Pubmed ID
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

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.

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X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 2 20%
Unknown 8 80%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 1 10%
Medicine and Dentistry 1 10%
Unknown 8 80%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 May 2021.
All research outputs
#19,957,118
of 25,387,668 outputs
Outputs from Breast Cancer Research
#1,657
of 2,054 outputs
Outputs of similar age
#327,328
of 453,943 outputs
Outputs of similar age from Breast Cancer Research
#28
of 32 outputs
Altmetric has tracked 25,387,668 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,054 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.2. This one is in the 16th percentile – i.e., 16% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 453,943 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.