ArticleFrontiers in oncology2015
Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression.
Article in Frontiers in oncology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Integrative Molecular Analyses of the MD Anderson Prostate Cancer Patient-derived Xenograft (MDA PCa PDX) Series.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- A statistical learning method for simultaneous copy number estimation and subclone clustering with single-cell sequencing data.Genome research · 2024Article
- SIRT6 promotes metastasis and relapse in HER2-positive breast cancer.Scientific reports · 2023Article
- Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients.Cancer research communications · 2023Article
- TBX3 stimulates proliferation and stem cell self-renewal in bladder carcinoma.Histology and histopathology · 2023Article
- Chromatin interactome mapping at 139 independent breast cancer risk signals.Genome biology · 2020Article
- Transcriptional repression of the ectodomain sheddase ADAM10 by TBX2 and potential implication for Alzheimer's disease.Cellular and molecular life sciences : CMLS · 2019Article
- PMLPR: A novel method for predicting subcellular localization based on recommender systems.Scientific reports · 2018Article
- Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.Nature genetics · 2018Article
- Expression level ofOncology letters · 2018Article
- Mixed ductal-lobular carcinomas: evidence for progression from ductal to lobular morphology.The Journal of pathology · 2018Article
- Overexpressed somatic alleles are enriched in functional elements in Breast Cancer.Scientific reports · 2017Article
- SUMO modification of a heterochromatin histone demethylase JMJD2A enables viral gene transactivation and viral replication.PLoS pathogens · 2017Article
- The T-box transcription factor TBX3 drives proliferation by direct repression of the p21(WAF1) cyclin-dependent kinase inhibitor.Cell division · 2016Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The closely related T-box transcription factors TBX2 and TBX3 are frequently overexpressed in melanoma and various types of human cancers, in particular, breast cancer. The overexpression of TBX2 and TBX3 can have several cellular effects, among them suppression of senescence, promotion of epithelial-mesenchymal transition, and invasive cell motility. In contrast, loss of function of TBX3 and most other human T-box genes causes developmental haploinsufficiency syndromes. Stephens and colleagues (1), by exome sequencing of breast tumor samples, identified five different mutations in TBX3, all affecting the DNA-binding T-domain. One in-frame deletion of a single amino acid, p.N212delN, was observed twice. Due to the clustering of these mutations to the T-domain and for statistical reasons, TBX3 was inferred to be a driver gene in breast cancer. Since mutations in the T-domain generally cause loss of function and because the tumorigenic action of TBX3 has generally been attributed to overexpression, we determined whether the putative driver mutations had loss- or gain-of-function properties. We tested two in-frame deletions, one missense, and one frameshift mutant protein for DNA-binding in vitro, and for target gene repression in cell culture. In addition, we performed an in silico analysis of somatic TBX mutations in breast cancer, collected in The Cancer Genome Atlas (TCGA). Both the experimental and the in silico analysis indicate that the observed mutations predominantly cause loss of TBX3 function.
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