Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans. 25683993 2015
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time. 23347652 2013
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE The newly developed method is valuable to rapidly identify COL1A1-PDGFB fusion transcripts in DFSP. 22842571 2012
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 GeneticVariation disease BEFREE The COL1A1/PDGFB translocation was detected in 93% of DFSP. 21484928 2011
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE The COL1A1-PDGFB fusion transcript was found in 100% DFSP-FS and 72% DFSP. 21570152 2011
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 AlteredExpression disease BEFREE Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP. 19663837 2010
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 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