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In situ sequencing ...
In situ sequencing identifies TMPRSS2-ERG fusion transcripts, somatic point mutations and gene expression levels in prostate cancers
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- Kiflemariam, Sara (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Rudbeck Lab, Uppsala, Sweden
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- Mignardi, Marco (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Solna, Sweden
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- Ali, Muhammad Akhtar (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik,Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Rudbeck Lab, Uppsala, Sweden
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- Bergh, Anders (author)
- Umeå universitet,Institutionen för medicinsk biovetenskap
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- Nilsson, Mats (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Solna, Sweden
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- Sjöblom, Tobias (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Rudbeck Lab, Uppsala, Sweden
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(creator_code:org_t)
- 2014-08-04
- 2014
- English.
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In: Journal of Pathology. - : Wiley. - 0022-3417 .- 1096-9896. ; 234:2, s. 253-261
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https://doi.org/10.1...
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Abstract
Subject headings
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- Translocations contribute to the genesis and progression of epithelial tumours and in particular to prostate cancer development. To better understand the contribution of fusion transcripts and visualize the clonal composition of multifocal tumours, we have developed a technology for multiplex in situ detection and identification of expressed fusion transcripts. When compared to immunohistochemistry, TMPRSS2-ERG fusion-negative and fusion-positive prostate tumours were correctly classified. The most prevalent TMPRSS2-ERG fusion variants were visualized, identified, and quantitated in human prostate cancer tissues, and the ratio of the variant fusion transcripts could for the first time be directly determined by in situ sequencing. Further, we demonstrate concurrent in situ detection of gene expression, point mutations, and gene fusions of the prostate cancer relevant targets AMACR, AR, TP53, and TMPRSS2-ERG. This unified approach to in situ analyses of somatic mutations can empower studies of intra-tumoural heterogeneity and future tissue-based diagnostics of mutations and translocations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- TMPRSS2-ERG
- padlock probes
- in situ sequencing
- prostate cancer
- somatic mutations
Publication and Content Type
- ref (subject category)
- art (subject category)
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