TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Brachyury and chordoma: the chondroid-chordoid dilemma resolved? 16604512 2006
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE These data provide compelling evidence that chordomas derive from notochord and demonstrate that brachyury is a specific marker for the notochord and notochord-derived tumours. 16538613 2006
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 GeneticVariation disease BEFREE Screening for mutations in brachyury (all coding exons and promoter), FGFRs 1-4 (previously reported mutations), KRAS (codons 12, 13, 51, 61) and BRAF (exons 11 and 15) failed to show any genetic alterations in 23 chordomas. 19407855 2009
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE All 10 typical and 4 poorly differentiated chordomas expressed brachyury; all 8 AT/RTs were brachyury immunonegative. 21057957 2010
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE The demonstration of gains of copy number of both T (brachyury homologue) and EGFR (epidermal growth factor receptor) genes in chordoma, as well as of their role in promoting cell proliferation, offers a strong preclinical rationale for exploring the inhibition of their products as a credible therapeutic strategy. 21394718 2011
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 GeneticVariation disease BEFREE Recent genomic investigation of chordomas has identified T (Brachyury) gene duplication as a major susceptibility mutation in familial chordomas. 21699479 2011
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma. 22847733 2012
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Brachyury is useful in separating parachordoma/myoepithelioma from chordoma. 23097005 2012
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Immunohistochemical staining and western blot analysis confirmed the presence of brachyury, a recently described marker of chordomas, in the tumor from the patient and each of the xenografts. 22283186 2012
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE The expression of brachyury in chordoma is necessary to maintain cell proliferation in chordoma cell lines, indicating that in chordoma it might be a master regulator of oncogenesis. 22952146 2012
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE The cells are brachyury-positive and have the characteristics of chordoma. 22002331 2012
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE Brachyury expression in chordoma tissues from 78 chordoma patients was analyzed by immunohistochemical staining of tissue microarray. 24086644 2013
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE Cells were cultured for more than 30 passages and the expression of the chordoma cell marker brachyury was monitored using both immunohistochemistry and Western blot. 23814489 2013
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Known for decades as a main regulator of notochord formation, Brachyury has recently gained interest as a biomarker and causative agent of chordoma, and therefore as a promising therapeutic target. 23662285 2013
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE The brachyury gene is believed to be one of the key genes involved in the pathogenesis of chordoma, a rare primary bone tumor originating along the spinal column or at the base of the skull. 24232574 2013
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Recent advances in the understanding of the molecular events that contribute to the development of chordomas are promising; the most novel finding being the identification of brachyury in the disease process. 25193090 2014
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE The second case was a quickly fatal clival tumor in a 2-year-old boy: This tumor was morphologically undifferentiated and raises the problem of differential diagnosis between an MRT, a malignant myoepithelial tumor, or an undifferentiated chordoma due to the location and the expression of brachyury. 25053104 2014
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE Fibroblast growth factor (FGF), a regulator of brachyury expression in normal tissue, may also play an important role in chordoma pathophysiology. 24445144 2014
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Recent evidence suggests that brachyury is a crucial molecular driver in the initiation and propagation of chordoma. 29360338 2016
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 AlteredExpression disease BEFREE All 8 cases were positive for brachyury, whereas there was no nuclear SMARCB1/INI1 expression in 4 of the 8 cases, including the poorly differentiated chordoma. 27635948 2017
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex. 28498973 2017
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Here, we show that brachyury is a crucial regulator of stemness in chordoma and in more common aggressive cancers. 29020634 2017
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 GeneticVariation disease BEFREE Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma. 29026114 2017
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 Biomarker disease BEFREE Chor-IN-1 displays genomic identity to the tumor of origin and has morphological features, growth characteristics and chromosomal abnormalities typical of chordoma, with expression of brachyury and other relevant biomarkers. 28835717 2017
CUI: C0008487
Disease: Chordoma
Chordoma
0.100 GeneticVariation disease BEFREE Recently, the single nucleotide polymorphism (SNP) rs2305089 in the T (brachyury) gene was strongly associated with sporadic chordoma development, but its clinical utility is undetermined. 27663388 2017