ArticleBMC medical genetics2010
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed.
- Article
- Comprehensive Assessment ofFrontiers in genetics · 2019Article
- Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?International journal of molecular sciences · 2017Review
- Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Human mutation · 2016Article
- MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.Genome biology · 2014Article
- BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.The oncologist · 2013Article
- Hereditary breast cancer: the era of new susceptibility genes.BioMed research international · 2013Review
- Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.Breast cancer research : BCR · 2012Article
- BRCA1 c.4987-3C>G is a pathogenic mutation.Breast cancer research and treatment · 2012Article
- Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although accurate prediction of aberrant splicing by unclassified variants affecting exonic splice enhancers (ESEs) remains a challenge.
methodsThis study used a combination of RT-PCR analysis and splicing reporter minigene assays to assess five unclassified variants in the BRCA2 gene that we had previously predicted to disrupt an ESE using bioinformatic approaches.
resultsAnalysis of BRCA2 c.8308 G > A (p.Ala2770Thr) by mRNA analysis, and BRCA2 c.8962A > G (p.Ser2988Gly), BRCA2 c.8972G > A (p.Arg2991His), BRCA2 c.9172A > G (p.Ser3058Gly), and BRCA2 c.9213G > T (p.Glu3071Asp) by a minigene assay, revealed no evidence for aberrant splicing.
conclusionsThese results illustrate the need for improved methods for predicting functional ESEs and the potential consequences of sequence variants contained therein.
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Registered trials
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