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  • Simon, M P, et al. (author)
  • Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
  • 1997
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 15:1, s. 95-8
  • Journal article (peer-reviewed)abstract
    • Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22). In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF), were characterised on the genomic and RNA level. These rearrangements fuse the platelet-derived growth factor B-chain (PDGFB, c-sis proto-oncogene) and the collagen type I alpha 1 (COL1A1) genes. PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes is not fully understood. COL1A1 is a major constituent of the connective tissue matrix. Neither PDGFB nor COL1A1 have so far been implicated in any tumour translocations. These gene fusions delete exon 1 of PDGFB, and release this growth factor from its normal regulation.
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
MANDAHL, N (1)
Kedra, D (1)
Fransson, I (1)
Pedeutour, F (1)
Sozzi, G (1)
Grosgeorge, J (1)
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O'Brien, K P (1)
Dumanski, J P (1)
Guilbaud, C (1)
Coindre, J-M (1)
Simon, M P (1)
Sirvent, N (1)
Minoletti, F (1)
Terrier-Lacombe, M J (1)
Craver, R D (1)
Blin, N (1)
Turc-Carel, C (1)
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University
Uppsala University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
1997 (1)

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