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 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 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 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 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 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
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE We studied the breakpoints of the COL1A1 gene using the tumor specimens from three patients with DFSP. 14643521 2003
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE This is one of the few studies to demonstrate the value of FISH analysis of the COL1A1-PDGFB gene, which could validate complicated and suspected diagnoses in the routine biopsy of DFSP. 28150334 2017
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Essentially no difference in the copy number of COL1A1-PDGFB fusion gene was observed between dermatofibrosarcoma protuberans areas of classic dermatofibrosarcoma protuberans and dermatofibrosarcoma protuberans areas of fibrosarcomatous dermatofibrosarcoma protuberans (median PDGFB copy gain of 1.8 versus 1.7, respectively, P=0.36). 16980946 2006
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor β (PDGFB) fusion gene. 25081750 2015
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Twenty-seven formalin-fixed, paraffin-embedded DFSP cases were analyzed using 18 COL1A1 forward primers and 1 exon 2 PDGFB reverse primer. 17950782 2008
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE To confirm the diagnosis, molecular studies were performed on fixed tumor and revealed the presence of the fusion product of the COL1A1-PDGFB genes characteristic of DFSP. 12660034 2003
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Differentiating dermatofibrosarcoma protuberans (DFSP) from other dermatofibromas using CD34 immunohistochemistry alone is difficult; therefore, fluorescence in situ hybridisation (FISH) analysis is often employed to identify typical COL1A1-PDGFB fusion or gene rearrangement. 22523339 2012
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. 30874910 2019
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Recently, the COL1A1-PDGFB chimeric gene resulting from a reciprocal translocation, t(17;22), and/or a supernumerary ring chromosome, r(17;22), has been identified, not only in conventional dermatofibrosarcoma protuberans (DFSP) but also in areas of DFSP with progression to fibrosarcoma (so-called fibrosarcomatous transformation) (FS-DFSP). 11329146 2001
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays. 21111450 2011
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans. 16040406 2005
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.100 GeneticVariation disease BEFREE Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP. 12786837 2003
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 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