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Molecular Pathology and Genetics |
1
Department of Biochemistry and Biotechnology, Royal Institute of Technology (KTH), S-100 44 Stockholm, Sweden.
2
Pharmacia Biotech AB, S-751 82 Uppsala, Sweden.
Departments of
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Pathology and
4
Oncology,
Akademiska University Hospital, S-751 85 Uppsala, Sweden.
a Author for correspondence. Fax 46-8-24 54 52;
The high prevalence of p53 mutations in human cancers and the suggestion from several groups that the presence or absence of p53 mutations might have both prognostic and therapeutic consequences point to the importance of optimal methods for p53 determination. Several strategies exploring this have been described, based either on mRNA or genomic DNA as a template. However, no comparative study on the reliability of the two templates has been performed. The principal aim of this study was to study the concordance of RNA- and DNA-based direct sequencing methods in detecting p53 mutations in breast tumors. In 100 tumors, 22 mutations were detected by both methods. Furthermore, one stop mutation, two splice-site mutations, and one intron alteration were found only by genomic sequencing. In addition, the comparative study suggests that cells with missense mutations have increased steady-state concentrations of p53-specific mRNA, in contrast to cells with a gene encoding a truncated protein.
The following articles in journals at HighWire Press have cited this article:
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  I. G. Campbell, W. Qiu, K. Polyak, I. Haviv, C. S. Zander, T. Soussi, G. Zalcman, E. Bergot, P. Hainaut, D. H. Roukos, et al. Breast-Cancer Stromal Cells with TP53 Mutations N. Engl. J. Med., April 10, 2008; 358(15): 1634 - 1636. [Full Text] [PDF]
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 J Bergqvist, J. Ohd, J Smeds, S Klaar, J Isola, H Nordgren, G. Elmberger, H Hellborg, J Bjohle, A-L Borg, et al. Quantitative real-time PCR analysis and microarray-based RNA expression of HER2 in relation to outcome Ann. Onc., May 1, 2007; 18(5): 845 - 850. [Abstract] [Full Text] [PDF]
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J. Andersson, L. Larsson, S. Klaar, L. Holmberg, J. Nilsson, M. Inganas, G. Carlsson, J. Ohd, C.-M. Rudenstam, B. Gustavsson, et al. Worse survival for TP53 (p53)-mutated breast cancer patients receiving adjuvant CMF Ann. Onc., May 1, 2005; 16(5): 743 - 748. [Abstract] [Full Text] [PDF]
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 K. Scheckenbach, O. Lieven, K. Gotte, U. Bockmuhl, R. Zotz, H. Bier, and V. Balz p53 Codon 72 Polymorphic Variants, Loss of Allele-Specific Transcription, and Human Papilloma Virus 16 and/or 18 E6 Messenger RNA Expression in Squamous Cell Carcinomas of the Head and Neck Cancer Epidemiol. Biomarkers Prev., November 1, 2004; 13(11): 1805 - 1809. [Abstract] [Full Text] [PDF]
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 C. Fouquet, M. Antoine, P. Tisserand, R. Favis, M. Wislez, F. Commo, N. Rabbe, M. F. Carette, B. Milleron, F. Barany, et al. Rapid and Sensitive p53 Alteration Analysis in Biopsies from Lung Cancer Patients Using a Functional Assay and A Universal Oligonucleotide Array: A Prospective Study Clin. Cancer Res., May 15, 2004; 10(10): 3479 - 3489. [Abstract] [Full Text] [PDF]
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 V. Balz, K. Scheckenbach, K. Gotte, U. Bockmuhl, I. Petersen, and H. Bier Is the p53 Inactivation Frequency in Squamous Cell Carcinomas of the Head and Neck Underestimated? Analysis of p53 Exons 2-11 and Human Papillomavirus 16/18 E6 Transcripts in 123 Unselected Tumor Specimens Cancer Res., March 15, 2003; 63(6): 1188 - 1191. [Abstract] [Full Text] [PDF]
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T. Norberg, S. Klaar, G. Karf, H. Nordgren, L. Holmberg, and J. Bergh Increased p53 Mutation Frequency during Tumor Progression--Results from a Breast Cancer Cohort Cancer Res., November 1, 2001; 61(22): 8317 - 8321. [Abstract] [Full Text] [PDF]
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 T. Norberg, S. Klaar, L. Lindqvist, T. Lindahl, J. Ahlgren, and J. Bergh Enzymatic Mutation Detection Method Evaluated for Detection of p53 Mutations in cDNA from Breast Cancers Clin. Chem., May 1, 2001; 47(5): 821 - 828. [Abstract] [Full Text] [PDF]
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D. R. Hodgson, S. J. Clayton, F. Girdler, I. Brotherick, B. Shenton, D. Browell, M. Stuart, J. C. Fox, P. Ceuppens, C. A. Foy, et al. ARMSTM Allele-specific Amplification-based Detection of Mutant p53 DNA and mRNA in Tumors of the Breast, Clin. Chem., April 1, 2001; 47(4): 774 - 778. [Full Text] [PDF]
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M. Ogura, Y. Agata, K. Watanabe, R. M. McCormick, Y. Hamaguchi, Y. Aso, and M. Mitsuhashi RNA chip: quality assessment of RNA by microchannel linear gel electrophoresis in injection-molded plastic chips Clin. Chem., November 1, 1998; 44(11): 2249 - 2255. [Abstract] [Full Text] [PDF]
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