ArticlePloS one2014
The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 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.
The trial behind it
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
34 citing papers in PubMed, 86 citations in OpenAlex.
- A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.PloS one · 2019Trial
- Biomarker discovery process at binomial decision point (2BDP): Analytical pipeline to construct biomarker panel.Computational and structural biotechnology journal · 2023Article
- Scalable detection of technically challenging variants through modified next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.Ecancermedicalscience · 2022Article
- Predictors of genetic testing uptake in newly diagnosed breast cancer patients.Journal of surgical oncology · 2020Article
- Genotype-phenotype associations among panel-based TP53+ subjects.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Multi gene panel testing for hereditary breast cancer - is it ready to be used?Medicine and pharmacy reports · 2019Review
- Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.Scientific reports · 2018Article
- A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing.BMC genomics · 2018Article
- Inherited Cancer in the Age of Next-Generation Sequencing.Biological research for nursing · 2018Review
- Reliable Biomarkers to Identify New and Recurrent Cancer.European journal of breast health · 2017Review
- Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.Gene therapy · 2017Review
- A multiplex primer design algorithm for target amplification of continuous genomic regions.BMC bioinformatics · 2017Article
- Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.Journal of human genetics · 2017Article
- A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.Scientific reports · 2017Article
- Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.PloS one · 2017Article
- Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.PeerJ · 2017Article
- Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.PloS one · 2017Article
- Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples.Oncotarget · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is the most commonly diagnosed cancer in women, with 10% of disease attributed to hereditary factors. Although BRCA1 and BRCA2 account for a high percentage of hereditary cases, there are more than 25 susceptibility genes that differentially impact the risk for breast cancer. Traditionally, germline testing for breast cancer was performed by Sanger dideoxy terminator sequencing in a reflexive manner, beginning with BRCA1 and BRCA2. The introduction of next-generation sequencing (NGS) has enabled the simultaneous testing of all genes implicated in breast cancer resulting in diagnostic labs offering large, comprehensive gene panels. However, some physicians prefer to only test for those genes in which established surveillance and treatment protocol exists. The NGS based BRCAplus test utilizes a custom tiled PCR based target enrichment design and bioinformatics pipeline coupled with array comparative genomic hybridization (aCGH) to identify mutations in the six high-risk genes: BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11. Validation of the assay with 250 previously characterized samples resulted in 100% detection of 3,025 known variants and analytical specificity of 99.99%. Analysis of the clinical performance of the first 3,000 BRCAplus samples referred for testing revealed an average coverage greater than 9,000X per target base pair resulting in excellent specificity and the sensitivity to detect low level mosaicism and allele-drop out. The unique design of the assay enabled the detection of pathogenic mutations missed by previous testing. With the abundance of NGS diagnostic tests being released, it is essential that clinicians understand the advantages and limitations of different test designs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.