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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.

BACKGROUND: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been described in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP. METHODS: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumour cells. Nucleotide sequence analysis was carried out using the PCR product to identify the breakpoint. RESULTS: The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. Sequence analysis revealed that exon 18 of the COL1A1 gene was fused with exon 2 of the PDGFB gene. CONCLUSIONS: This study identified a novel COL1A1 breakpoint, namely, exon 18 of the COL1A1 gene.[1]


  1. Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript. Saeki, H., Ohmatsu, H., Hoashi, T., Asano, N., Idezuki, T., Kawabata, Y., Asahina, A., Kikuchi, K., Tamaki, K. Br. J. Dermatol. (2003) [Pubmed]
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