ArticlePloS one2014
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- PARP-1 Expression andCancers · 2022Article
- Functional Restoration ofFrontiers in pharmacology · 2022Article
- Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.Genome medicine · 2021Article
- Article
- Characterization of Promiscuous Binding of Phosphor Ligands to Breast-Cancer-Gene 1 (BRCA1) C-Terminal (BRCT): Molecular Dynamics, Free Energy, Entropy and Inhibitor Design.PLoS computational biology · 2016Article
- Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.NPJ genomic medicine · 2016Article
- Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.Cancer discovery · 2015Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the DNA sequence, determining the effect of missense variants present a significant challenge. A series of biochemical and cell biological assays have been successfully used to explore the impact of these variants on the function of BRCA1, which contribute to assessing their likelihood of pathogenicity. It has been determined that variants that co-localize with structural or functional motifs are more likely to disrupt the stability and function of BRCA1. Here we assess the functional impact of 37 variants chosen to probe the functional impact of variants in phosphorylation sites and in the BRCT domains. In addition, we perform a meta-analysis of 170 unique variants tested by the transcription activation assays in the carboxy-terminal domain of BRCA1 using a recently developed computation model to provide assessment for functional impact and their likelihood of pathogenicity.
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Registered trials
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