COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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 AlteredExpression disease BEFREE Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. 30187166 2019
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 Biomarker disease BEFREE In attendees, t(17;22) COL1A1-PDGFB FISH testing for classic cases of DFSP is appropriately not being used by respondents. 30155908 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma
0.100 Biomarker disease BEFREE Dermatofibrosarcoma protuberans is underlined by recurrent collagen type I alpha 1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusions but ~ 4% of typical dermatofibrosarcoma protuberans remain negative for this translocation in routine molecular screening. 29955147 2018
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 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 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 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 With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs. 26261653 2015
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 Biomarker disease BEFREE Molecular characterisation showed the absence of COL1A1-PDGFB fusion transcripts in cases 1, 3 and 4, excluded diagnosis of giant cell fibroblastoma in all cases. 24108432 2014
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma
0.100 Biomarker disease BEFREE COL1A1-PDGFB gene fusion is frequent in DFSP, rendering tumor cell proliferation and survival dependent on PDGFRβ (platelet-derived growth factor receptor β) signaling. 24173542 2014
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 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 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 Biomarker disease BEFREE DFSP is thought to result from a translocation between platelet-derived growth factor beta (PDGFB, 22q13.1) and type 1 collagen (COL1A1, 17q21≈22) leading to a fusion protein (PDGFB) which stimulates the PDGF receptor. 22780227 2013
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 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 Biomarker disease BEFREE The newly developed method is valuable to rapidly identify COL1A1-PDGFB fusion transcripts in DFSP. 22842571 2012
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 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 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 Biomarker disease BEFREE The COL1A1-PDGFB fusion transcript was found in 100% DFSP-FS and 72% DFSP. 21570152 2011
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 AlteredExpression disease BEFREE FISH analysis revealed COL1A1-PDGFB gene rearrangement in all DFSP cases (n=7), whereas RT-PCR could detect the COL1A1-PDGFB fusion transcript only in 1 DFSP.Two cases were negative. 20061935 2010