Constanze Pagenstecher

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants
    Constanze Pagenstecher
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 119:9-22. 2006
  2. ncbi Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene
    Stefan Aretz
    Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany
    Hum Mutat 24:370-80. 2004
  3. ncbi Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
    Elisabeth Mangold
    Institute of Human Genetics, University Hospital Bonn, Germany
    Int J Cancer 116:692-702. 2005
  4. ncbi Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining
    Elisabeth Mangold
    Institute of Human Genetics, University of Bonn, Germany
    J Pathol 207:385-95. 2005
  5. ncbi Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes
    Maria Wehner
    Institute of Human Genetics, University of Bonn, Germany
    Eur J Hum Genet 13:983-6. 2005
  6. pmc A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification
    Constanze Pagenstecher
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    J Mol Diagn 9:122-6. 2007
  7. ncbi Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
    Yaping Wang
    Institute of Human Genetics, University Clinics Bonn, Germany
    Int J Cancer 103:636-41. 2003
  8. ncbi High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Hum Mutat 26:513-9. 2005
  9. ncbi MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Int J Cancer 119:807-14. 2006
  10. ncbi Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Germany
    Eur J Hum Genet 12:52-8. 2004

Collaborators

Detail Information

Publications22

  1. ncbi Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants
    Constanze Pagenstecher
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 119:9-22. 2006
    ..2123T > A, MLH1,c.464T > G, MLH1,c.875T > C and MLH1,c.2210A > T) were found in similar proportions in the mRNA as in the genomic DNA. We conclude that the mRNA examination should precede functional tests at protein level...
  2. ncbi Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene
    Stefan Aretz
    Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany
    Hum Mutat 24:370-80. 2004
    ..The functional analysis of variants with unknown pathogenic effect plays an important role in increasing the mutation detection rate and achieving validation of predictive testing...
  3. ncbi Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
    Elisabeth Mangold
    Institute of Human Genetics, University Hospital Bonn, Germany
    Int J Cancer 116:692-702. 2005
    ....
  4. ncbi Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining
    Elisabeth Mangold
    Institute of Human Genetics, University of Bonn, Germany
    J Pathol 207:385-95. 2005
    ..The high specificity of IHC in terms of indicating the affected gene is useful for evaluating unspecified variants. However, the staining pattern does not predict whether the underlying germ-line mutation is truncating or not...
  5. ncbi Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes
    Maria Wehner
    Institute of Human Genetics, University of Bonn, Germany
    Eur J Hum Genet 13:983-6. 2005
    ..We conclude that single exon deletions, detected by MLPA or multiplex PCR, should be validated with additional methods...
  6. pmc A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification
    Constanze Pagenstecher
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    J Mol Diagn 9:122-6. 2007
    ..Our findings demonstrate that part of the pathogenic mutations remain undetected by routine methods. Moreover, MLPA and RNA analysis alone would have led to an incorrect interpretation of a genomic deletion of exon 4...
  7. ncbi Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
    Yaping Wang
    Institute of Human Genetics, University Clinics Bonn, Germany
    Int J Cancer 103:636-41. 2003
    ..The results of our study suggest that large genomic deletions in both MSH2 and MLH1 genes play a considerable role in the pathogenesis of HNPCC and should be part of the routine HNPCC mutation detection protocols...
  8. ncbi High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Hum Mutat 26:513-9. 2005
    ..There may be still other mutations in the STK11 gene that are not detectable by the methods applied here. Therefore, it is questionable whether a second PJS locus exists at all...
  9. ncbi MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Int J Cancer 119:807-14. 2006
    ..Colorectal surveillance starting at about 18 years of age is recommended for biallelic mutation carriers and siblings of MAP patients, who refuse predictive testing...
  10. ncbi Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis
    Stefan Aretz
    Institute of Human Genetics, University of Bonn, Germany
    Eur J Hum Genet 12:52-8. 2004
    ..Sex-related differences of mutation types could be observed: large deletions and single-base substitutions were exclusively of paternal origin, whereas the small deletions were equally distributed (maternal/paternal ratio 4:4)...
  11. ncbi HNPCC-associated small bowel cancer: clinical and molecular characteristics
    Karsten Schulmann
    Department of Medicine, Knappschaftskrankenhaus, Ruhr University Bochum, Bochum, Germany
    Gastroenterology 128:590-9. 2005
    ..The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized...
  12. ncbi The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1
    Stefan Kruger
    Department of Surgical Research, Dresden University of Technology, D 01307 Dresden, Germany
    Cancer Lett 252:55-64. 2007
    ..These findings may be relevant for preventive strategies in Lynch syndrome...
  13. ncbi Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium
    Timm Goecke
    University Hospital, Heinrich Heine University, Institute of Human Genetics and Department of Surgery, Dusseldorf, Germany
    J Clin Oncol 24:4285-92. 2006
    ..Lynch syndrome is linked to germline mutations in mismatch repair genes. We analyzed the genotype-phenotype correlations in the largest cohort so far reported...
  14. pmc Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH
    Heike Görgens
    Department of Surgical Research, Universitatsklinikum Carl Gustav Carus, Dresden University of Technology, Dresden, Germany
    J Mol Diagn 8:178-82. 2006
    ....
  15. ncbi 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...
  16. ncbi 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)...
  17. ncbi 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...
  18. ncbi Microsatellite instability of selective target genes in HNPCC-associated colon adenomas
    Stefan M Woerner
    Institute of Molecular Pathology, University of Heidelberg, Germany
    Oncogene 24:2525-35. 2005
    ....
  19. ncbi Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects
    Sven Gottschling
    Department of Pediatric Hematology and Oncology Saarland University, University Children s Hospital, Homburg, Germany
    Eur J Pediatr 167:225-9. 2008
    ..We propose to take a retinoic acid chemoprevention into account in children with proven biallelic PMS2 mismatch repair mutations being at highest risk concerning the development of a malignancy...
  20. ncbi N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC)
    Steffen Pistorius
    Department of Visceral, Thoracic and Vascular Surgery, University of Technology Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Cancer Lett 241:150-7. 2006
    ..0442). These data do not support the hypothesis that the NAT2 acetylatorship acts as a modifying factor on AO in HNPCC-associated CRC...
  21. ncbi 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...
  22. ncbi Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study
    Stefan Kruger
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    Lancet Oncol 6:566-72. 2005
    ....