COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Giant Cell Fibroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE We examined the breakpoints of the COL1A1 gene using the tumour specimens from four patients with DFSP. 16681596 2006
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Large areas of chromosomes 17q and 22q, bounded by COL1A1 and PDGF beta, respectively, were amplified in DFSP. 14633610 2003
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 AlteredExpression disease BEFREE These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way. 11420709 2001
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. 8988177 1997
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP. 12641779 2003
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Genomic gains of COL1A1-PDGFB were found predominantly in the DFSP component of GCF/DFSP hybrids but in none of the pure GCF, suggesting that these gains are associated with the histologic evolution of GCF into DFSP. 18069662 2008
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE The novel fusion partners appear well suited to drive USP6 transcription in the bone/mesenchymal context: osteomodulin is expressed strongly in osteoblastic lineages, and the COL1A1 promoter has an oncogenic role in the mesenchymal cancer dermatofibrosarcoma protuberans. 15735689 2005
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE The most remarkable cytogenetic feature of DFSP is the chromosomal translocation t(17;22)(q22;q13), causing a fusion of the platelet-derived growth factor beta chain (PDGFB) gene at 22q13, and the collagen type 1 alpha 1 (COL1A1) at 17q22. 23207290 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. 9771975 1998
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans. 25683993 2015
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time. 23347652 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Because COL1A1 exon 29 has been involved previously in gene fusion with PDGFB exon 2 in several cases of adult or infantile DP presenting either t(17;22) or ring chromosomes, our results support the concept that DP, GCF, and BT are morphologic variants of a same entity, rather than distinct tumors. 12034531 2002
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive malignant fibroblastic/myofibroblastic tumor of the skin, characterized by the t(17:22)(q22:q13) translocation resulting in fusion of the COL1A1 and PDGFB genes. 26488716 2016
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 AlteredExpression disease BEFREE A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc.Eight cases were analysed. 16731589 2007
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma Protuberans (DFSP) carries a translocation resulting in the COL1A1/PDGFB fusion-gene, responsible for platelet derived growth factor beta receptor (PDGFRB) activation. 21128251 2011
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE To analyse the presence of collagen type I alpha 1-platelet-derived growth factor beta (COL1A1-PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. 19635106 2009
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 AlteredExpression disease BEFREE The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. 23922791 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma protuberans is characterized by a specific translocation t(17;22)(q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts. 27806849 2016
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 AlteredExpression disease BEFREE Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP. 19663837 2010
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE Detection of COL1A1-PDGFB fusion transcripts and platelet-derived growth factor alpha and beta receptors in giant cell fibroblastoma of the postsacrococcygeal region. 16634907 2006
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 AlteredExpression disease BEFREE We now report characterization of COL1A1/PDGFB chimeric genes at the RNA and DNA sequence levels in a series of DFSPs and GCFs. 9739023 1998
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 Biomarker disease BEFREE This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring chromosomes, showing that DFSP is similar to other borderline malignant mesenchymal tumours, where rings and giant markers are alternative vehicles for amplified material. 10072161 1998
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE The most frequent molecular abnormality observed in dermatofibrosarcoma protuberans (DFSP) is the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the alpha-chain of type 1 collagen, COL1A1 from 17q22, to the platelet-derived growth factor beta-chain, PDGFB gene from 22q13. 16640548 2006
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE The COL1A1/PDGFB translocation was detected in 93% of DFSP. 21484928 2011
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE The characteristic DFSP-associated translocation, t(17;22)(q22;q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients. 22153773 2012