ArticleScientific reports2014
Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed, 36 citations in OpenAlex.
- Development of DNA Insertion-specific Markers Based on the Intron Region of Oplegnathus punctatus itih4b for Genetic Sex Identification.Marine biotechnology (New York, N.Y.) · 2024Article
- A prometastatic splicing program regulated by SNRPA1 interactions with structured RNA elements.Science (New York, N.Y.) · 2021Article
- Article
- Screening and Identification of Survival-Associated Splicing Factors in Lung Squamous Cell Carcinoma.Frontiers in genetics · 2021Article
- Article
- Three-microRNA expression signature predicts survival in triple-negative breast cancer.Oncology letters · 2020Article
- Aberrant RNA Splicing Events Driven by Mutations of RNA-Binding Proteins as Indicators for Skin Cutaneous Melanoma Prognosis.Frontiers in oncology · 2020Article
- Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.Frontiers in genetics · 2020Article
- Article
- Comparative genomic analysis of collagen gene diversity.3 Biotech · 2019Article
- RNA Splicing and Disease: Animal Models to Therapies.Trends in genetics : TIG · 2019Review
- Contribution of alternative splicing to breast cancer metastasis.Journal of cancer metastasis and treatment · 2019Article
- Insights from structures of cancer-relevant pre-mRNA splicing factors.Current opinion in genetics & development · 2018Review
- Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.F1000Research · 2018Article
- RNA processing as an alternative route to attack glioblastoma.Human genetics · 2017Review
- Somatic TP53 Mutations in the Era of Genome Sequencing.Cold Spring Harbor perspectives in medicine · 2016Review
- Genome-wide association studies and epigenome-wide association studies go together in cancer control.Future oncology (London, England) · 2016Article
- SURVIV for survival analysis of mRNA isoform variation.Nature communications · 2016Article
- Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks.Genome research · 2016Article
- Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes.Oncogene · 2016Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Somatic mutations reported in large-scale breast cancer (BC) sequencing studies primarily consist of protein coding mutations. mRNA splicing mutation analyses have been limited in scope, despite their prevalence in Mendelian genetic disorders. We predicted splicing mutations in 442 BC tumour and matched normal exomes from The Cancer Genome Atlas Consortium (TCGA). These splicing defects were validated by abnormal expression changes in these tumours. Of the 5,206 putative mutations identified, exon skipping, leaky or cryptic splicing was confirmed for 988 variants. Pathway enrichment analysis of the mutated genes revealed mutations in 9 NCAM1-related pathways, which were significantly increased in samples with evidence of lymph node metastasis, but not in lymph node-negative tumours. We suggest that comprehensive reporting of DNA sequencing data should include non-trivial splicing analyses to avoid missing clinically-significant deleterious splicing mutations, which may reveal novel mutated pathways present in genetic disorders.
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Registered trials
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.