Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 AlteredExpression disease BEFREE Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans. 28150334 2018
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 GeneticVariation disease BEFREE Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair. 26261653 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 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 2014
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 Biomarker disease BEFREE Our results confirm that analysis of the COL1A1-PDGFB status by FISH and RT-PCR is a useful tool in the confirmation of a DFSP diagnosis. 23207290 2013
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans. 22842571 2012
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 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 Biomarker disease BEFREE COL1A1-PDGFB is a useful tool for diagnosis of DFSP and particularly for DFSP-FS. 21570152 2011
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE Interestingly, all CD34 negative DFSP (n = 5) were positive for COL1A1/PDGFB translocation by both techniques. 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 AlteredExpression disease BEFREE Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP. 19663837 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 GeneticVariation 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 Biomarker disease BEFREE Fluorescence in situ hybridization analysis did not reveal the DFSP fusion gene COL1A1-PDGFB. 19016705 2009
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
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. 17950782 2008
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 GeneticVariation disease BEFREE Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion. 18253748 2008
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans. 18069662 2008
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 Biomarker disease BEFREE Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. 16980946 2007
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
0.400 GeneticVariation disease BEFREE A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans. 17478383 2007