J Plaschke

Summary

Affiliation: Technical University
Country: Germany

Publications

  1. ncbi request reprint Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    J Clin Oncol 22:4486-94. 2004
  2. ncbi request reprint Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Germany
    Hum Mutat 23:285. 2004
  3. ncbi request reprint Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression
    Jens Plaschke
    Department of Surgical Research, Institute of Pathology, Institute of Clinical Genetics, Carl Gustav Carus Hospital, Dresden University of Technology, Dresden, Germany
    Cancer Res 64:864-70. 2004
  4. pmc Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Dresden University of Technology, D 01307 Dresden, Germany
    J Med Genet 40:597-600. 2003
  5. ncbi request reprint Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    Eur J Hum Genet 14:561-6. 2006
  6. ncbi request reprint Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability
    Jens Plaschke
    Department of Surgical Research, Carl Gustav Carus Hospital, Dresden University of Technology, Fetscherstrasse 74, D 01307 Dresden, Germany
    Cancer Lett 191:179-85. 2003
  7. ncbi request reprint Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation
    Jens Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University, Dresden, Germany
    Int J Cancer 97:643-8. 2002
  8. ncbi request reprint Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University, Dresden, Germany
    Int J Cancer 85:606-13. 2000
  9. ncbi request reprint Quantitative differences between aberrant transcripts which occur as common isoforms and due to mutation-based exon skipping of the mismatch repair gene hMLH1
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University Dresden, Germany
    Clin Chem Lab Med 37:883-7. 1999
  10. ncbi request reprint Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations
    S R Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, Technical University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    Int J Colorectal Dis 15:255-63. 2000

Detail Information

Publications24

  1. ncbi request reprint Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    J Clin Oncol 22:4486-94. 2004
    ..The aim of the study was the analysis of the involvement and phenotypic manifestations of MSH6 germline mutations in families suspected of hereditary nonpolyposis colorectal cancer (HNPCC)...
  2. ncbi request reprint Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Germany
    Hum Mutat 23:285. 2004
    ..In addition, our findings point towards a broad variability regarding penetrance associated with MSH6 germline mutations...
  3. ncbi request reprint Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression
    Jens Plaschke
    Department of Surgical Research, Institute of Pathology, Institute of Clinical Genetics, Carl Gustav Carus Hospital, Dresden University of Technology, Dresden, Germany
    Cancer Res 64:864-70. 2004
    ..001), suggesting that MSH3 abrogation may be a predictor of metastatic disease or even favor tumor cell spread in MLH1-deficient colorectal cancers...
  4. pmc Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Dresden University of Technology, D 01307 Dresden, Germany
    J Med Genet 40:597-600. 2003
    ..A substantial fraction of these mutations exists in genomic rearrangements of hMSH2 and hMLH1. In contrast, genomic rearrangements have not been reported in hMSH6...
  5. ncbi request reprint Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
    Jens Plaschke
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    Eur J Hum Genet 14:561-6. 2006
    ..Our data suggest considering biallelic mutations in MMR genes for patients who develop HNPCC-associated tumors at an unusually young age of onset, even without hematological or brain malignancies...
  6. ncbi request reprint Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability
    Jens Plaschke
    Department of Surgical Research, Carl Gustav Carus Hospital, Dresden University of Technology, Fetscherstrasse 74, D 01307 Dresden, Germany
    Cancer Lett 191:179-85. 2003
    ..Whereas our results do not support an association of high enzyme activity and increased risk of colorectal cancer in general, we can not exclude an association of patients with hereditary disease and the MTHFR 1298A --> C variant...
  7. ncbi request reprint Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation
    Jens Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University, Dresden, Germany
    Int J Cancer 97:643-8. 2002
    ..We conclude that the involvement of somatic or epigenetic hMSH6 inactivation in colorectal cancer is rare...
  8. ncbi request reprint Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University, Dresden, Germany
    Int J Cancer 85:606-13. 2000
    ....
  9. ncbi request reprint Quantitative differences between aberrant transcripts which occur as common isoforms and due to mutation-based exon skipping of the mismatch repair gene hMLH1
    J Plaschke
    Department of Surgical Research, Carl Gustav Carus Klinikum, Technical University Dresden, Germany
    Clin Chem Lab Med 37:883-7. 1999
    ..Although the biological significance of the common isoforms is unknown, they might lead to false risk assessment in hereditary non-polyposis colorectal cancer cases...
  10. ncbi request reprint Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations
    S R Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, Technical University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    Int J Colorectal Dis 15:255-63. 2000
    ..9% mutation detection rate. Identification of individual mutation status allows clear-cut decisions on whether or not inclusion in surveillance programs is indicated...
  11. ncbi request reprint The putative tumor suppressor gene FHIT at 3p14.2 is rarely affected by loss of heterozygosity in primary human brain tumors
    S Frank
    Department of Surgical Research, Technical University of Dresden, Germany
    Cancer Res 57:2638-41. 1997
    ..In contrast, observed LOH rate for brain metastases was as high as 54.5% (n = 45), in accordance with data thus far accumulated from analyses of corresponding primary tumors...
  12. pmc The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC)
    S Kruger
    Department of Surgical Research, Dresden University of Technology, Germany
    J Med Genet 42:769-73. 2005
    ..These findings may be relevant for preventive strategies in HNPCC...
  13. ncbi request reprint Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer
    Stefan Kruger
    Department of Surgical Research, Dresden University of Technology, Fetscherstr 74, D 01307 Dresden, Germany
    Cancer Lett 236:191-7. 2006
    ..111, 95%CI 0.950-1.299, P = 0.188 and 1.090, 95%CI 0.868-1.369, P = 0.459 for the additive and dominant effect, respectively). We conclude, that the CCND1 G870A sequence variation is not a genetic modifier of the phenotype of HNPCC...
  14. ncbi request reprint Ten novel MSH2 and MLH1 germline mutations in families with HNPCC
    Stefan Kruger
    Department of Surgical Research, Universitatsklinikum Carl Gustav Carus, Dresden University of Technology, Dresden, Germany
    Hum Mutat 24:351-2. 2004
    ..1990-2A>G showed a reduction of expression of the MLH1-protein, rather than complete loss. In the tumor from the patient with the missense mutation c.122A>G [p.D41G] a normal expression of the proteins coded by MLH1 and MSH2 was noticed...
  15. ncbi request reprint Molecular mechanisms associated with chromosomal and microsatellite instability in sporadic glioblastoma multiforme
    Ramon Martinez
    Department of Neurosurgery, Institute of Pathology of the University of Dresden, Dresden, Germany
    Oncology 66:395-403. 2004
    ..We aimed to perform a comprehensive analysis of the relationship between CIN and MSI mechanisms in sporadic glioblastomas...
  16. ncbi request reprint Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer
    Stefan Kruger
    Department of Surgical Research, Universitatsklinikum Carl Gustav Carus, University of Technology, Dresden, Germany
    Hum Mutat 19:82. 2002
    ..This missense mutation was not found in 107 healthy control individuals and in 54 HNPCC patients...
  17. ncbi request reprint Identification of six novel MSH2 and MLH1 germline mutations in HNPCC
    Stefan Kruger
    Department of Surgical Research, Universitatsklinikum Carl Gustav Carus, University of Technology, Dresden, Germany
    Hum Mutat 21:445-6. 2003
    ..The tumor from the patient with the c.821_824dupAAGC mutation showed a reduced, rather than lost, expression of the MLH1-protein...
  18. ncbi request reprint Occult endometrial cancer and decision making for prophylactic hysterectomy in hereditary nonpolyposis colorectal cancer patients
    Steffen Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    Gynecol Oncol 102:189-94. 2006
    ..In addition to the high lifetime risk for colorectal cancer in mutation carriers, there is also a remarkably increased risk for endometrial cancer (EC)...
  19. doi request reprint Microsatellite instability and loss of heterozygosity in squamous cell carcinoma of the head and neck
    Susanne Koy
    Department of Oral and Maxillofacial Surgery, University Hospital Carl Gustav Carus, Technical University Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Head Neck 30:1105-13. 2008
    ..The aim of our study was to disclose the frequency and basis of MSI in HNSCC and to correlate MSI and findings on loss of heterozygosity (LOH) with the clinical data...
  20. doi request reprint TCF-3, 4 protein expression correlates with beta-catenin expression in MSS and MSI-H colorectal cancer from HNPCC patients but not in sporadic colorectal cancers
    Peter Balaz
    Department of Surgical Research, Technische Universitat Dresden, Dresden, Germany
    Int J Colorectal Dis 25:931-9. 2010
    ....
  21. ncbi request reprint Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines
    Susanne Seitz
    Abteilung Tumorgenetik, Max Delbruck Centrum fur Molekulare Medizin, Berlin, Germany
    Genes Chromosomes Cancer 37:29-35. 2003
    ..We provide evidence that the inactivation of MMR genes is responsible for MSI in these cell lines...
  22. ncbi request reprint Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer
    Christoph Engel
    Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
    Int J Cancer 118:115-22. 2006
    ..A cost analysis reveals that about 25% of the costs can be saved using this strategy...
  23. ncbi request reprint Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations
    Steffen Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Cancer Lett 248:89-95. 2007
    ..However, genomic rearrangements are rare in patients carrying point mutations in MMR genes. These findings suggest the use of genomic rearrangement tests in addition to Sanger sequencing in HNPCC patients...
  24. ncbi request reprint N-Acetyltransferase (NAT) 2 acetylator status and age of tumour onset in patients with sporadic and familial, microsatellite stable (MSS) colorectal cancer
    Steffen Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, University of Technology Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Int J Colorectal Dis 22:137-43. 2007
    ....