Matthias Kloor

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. doi request reprint Analysis of EPCAM protein expression in diagnostics of Lynch syndrome
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    J Clin Oncol 29:223-7. 2011
  2. pmc Microsatellite instability and Beta2-Microglobulin mutations as prognostic markers in colon cancer: results of the FOGT-4 trial
    A Tikidzhieva
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220 221, Heidelberg 69120, Germany
    Br J Cancer 106:1239-45. 2012
  3. pmc High density of FOXP3-positive T cells infiltrating colorectal cancers with microsatellite instability
    S Michel
    Molecular Medicine Partnership Unit MMPU, Department of Applied Tumour Biology, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220 221, Heidelberg 69120, Germany
    Br J Cancer 99:1867-73. 2008
  4. doi request reprint Clinical significance of microsatellite instability in colorectal cancer
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Langenbecks Arch Surg 399:23-31. 2014
  5. doi request reprint [Pathogenesis of microsatellite-unstable colorectal cancer. Evaluation of new diagnostic and therapeutic options]
    M Kloor
    Abteilung für Angewandte Tumorbiologie, Institut fur Pathologie, Universitatsklinikum Heidelberg, Im Neuenheimer Feld 220, 69120, Heidelberg, Deutschland
    Pathologe 34:277-81. 2013
  6. doi request reprint Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study
    Matthias Kloor
    Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Lancet Oncol 13:598-606. 2012
  7. pmc Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study
    Daniele Campa
    Genomic Epidemiology Group, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    BMC Gastroenterol 10:112. 2010
  8. ncbi request reprint Molecular testing for microsatellite instability and its value in tumor characterization
    Matthias Kloor
    Institute of Molecular Pathology, Im Neuenheimer Feld 220 221, 69120 Heidelberg, Germany
    Expert Rev Mol Diagn 5:599-611. 2005
  9. ncbi request reprint Beta2-microglobulin mutations in microsatellite unstable colorectal tumors
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Heidelberg, Germany
    Int J Cancer 121:454-8. 2007
  10. doi request reprint [Molecular pathogenesis. Its importance in targeted therapy in colorectal cancer]
    M Kloor
    Abteilung für Angewandte Tumorbiologie, Institut fur Pathologie, Universitatsklinikum Heidelberg, Im Neuenheimer Feld 220, 69120 Heidelberg
    Pathologe 29:196-9. 2008

Detail Information

Publications53

  1. doi request reprint Analysis of EPCAM protein expression in diagnostics of Lynch syndrome
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    J Clin Oncol 29:223-7. 2011
    ..We hypothesized that EPCAM protein expression might be altered in tumors from patients with a germline EPCAM deletion...
  2. pmc Microsatellite instability and Beta2-Microglobulin mutations as prognostic markers in colon cancer: results of the FOGT-4 trial
    A Tikidzhieva
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220 221, Heidelberg 69120, Germany
    Br J Cancer 106:1239-45. 2012
    ....
  3. pmc High density of FOXP3-positive T cells infiltrating colorectal cancers with microsatellite instability
    S Michel
    Molecular Medicine Partnership Unit MMPU, Department of Applied Tumour Biology, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220 221, Heidelberg 69120, Germany
    Br J Cancer 99:1867-73. 2008
    ..These data suggest that FOXP3-positive cells may play a role in the regulation of the immune response directed against MSI-H colorectal cancers at the primary tumour site...
  4. doi request reprint Clinical significance of microsatellite instability in colorectal cancer
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Langenbecks Arch Surg 399:23-31. 2014
    ..MSI-H colorectal cancers can occur as sporadic tumors or in the context of hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome...
  5. doi request reprint [Pathogenesis of microsatellite-unstable colorectal cancer. Evaluation of new diagnostic and therapeutic options]
    M Kloor
    Abteilung für Angewandte Tumorbiologie, Institut fur Pathologie, Universitatsklinikum Heidelberg, Im Neuenheimer Feld 220, 69120, Heidelberg, Deutschland
    Pathologe 34:277-81. 2013
    ....
  6. doi request reprint Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study
    Matthias Kloor
    Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Lancet Oncol 13:598-606. 2012
    ..We asked whether in Lynch syndrome biallelic inactivation of MMR genes occurred at a similar frequency to that of APC gene, and whether MMR inactivation resulted in detectable lesions within the intestinal mucosa...
  7. pmc Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study
    Daniele Campa
    Genomic Epidemiology Group, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    BMC Gastroenterol 10:112. 2010
    ..Accumulating evidence also indicates a role of ghrelin in cancer development...
  8. ncbi request reprint Molecular testing for microsatellite instability and its value in tumor characterization
    Matthias Kloor
    Institute of Molecular Pathology, Im Neuenheimer Feld 220 221, 69120 Heidelberg, Germany
    Expert Rev Mol Diagn 5:599-611. 2005
    ..This review summarizes the current significance of molecular testing for microsatellite instability in several tumor entities and provides prospects of future developments...
  9. ncbi request reprint Beta2-microglobulin mutations in microsatellite unstable colorectal tumors
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Heidelberg, Germany
    Int J Cancer 121:454-8. 2007
    ..However, no beta2m mutations were observed in metastasized CRCs (UICC stage IV, p=0.04). These results suggest that functional beta2m may be necessary for distant metastasis formation in CRC patients...
  10. doi request reprint [Molecular pathogenesis. Its importance in targeted therapy in colorectal cancer]
    M Kloor
    Abteilung für Angewandte Tumorbiologie, Institut fur Pathologie, Universitatsklinikum Heidelberg, Im Neuenheimer Feld 220, 69120 Heidelberg
    Pathologe 29:196-9. 2008
    ..Interventions specifically targeting these antigens may be the basis for novel therapeutic strategies in MSI colorectal cancer and will be evaluated in clinical trials...
  11. pmc Lack of HLA class II antigen expression in microsatellite unstable colorectal carcinomas is caused by mutations in HLA class II regulatory genes
    Sara Michel
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Molecular Medicine Partnership Unit, Heidelberg, Germany
    Int J Cancer 127:889-98. 2010
    ..We conclude that somatic mutations of the RFX5 gene represent a novel mechanism of loss of HLA class II antigen expression in tumor cells, potentially contributing to immune evasion in MSI-H CRCs...
  12. doi request reprint The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors
    Cathrin Huth
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Mod Pathol 25:911-6. 2012
    ..Moreover, we report lack of EPCAM protein expression in a colorectal adenoma, suggesting that EPCAM immunohistochemistry may detect EPCAM germline deletions already at a precancerous stage...
  13. doi request reprint Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers
    Yvette Schwitalle
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, and Group Cancer Early Detection, German Cancer Research Center DKFZ, Molecular Medicine Partnership Unit MMPU, Heidelberg, Germany
    Gastroenterology 134:988-97. 2008
    ..However, the role of FSP-specific immune surveillance mechanisms in HNPCC are unknown at present...
  14. ncbi request reprint Small bowel adenocarcinomas in celiac disease follow the CIM-MSI pathway
    Frank Bergmann
    Department of General Pathology, Institute of Pathology, University of Heidelberg, 69120 Heidelberg, Germany
    Oncol Rep 24:1535-9. 2010
    ..The data further suggest that CD should be considered in patients with small bowel adenocarcinoma, particularly when the tumors display MSI...
  15. doi request reprint Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility
    Jesus Lascorz
    Division of Molecular Genetic Epidemiology, German Cancer Research Center DKFZ, Heidelberg 69120, Germany
    Carcinogenesis 31:1612-9. 2010
    ..The risk of CRC increased significantly with an increasing number of risk alleles in seven genes involved in MAPK signalling events (P(trend) = 2.2 x 10(-16), OR(per allele) = 1.34, 95% CI 1.11-1.61)...
  16. doi request reprint T cell responses against microsatellite instability-induced frameshift peptides and influence of regulatory T cells in colorectal cancer
    Kathrin Bauer
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220, 69120, Heidelberg, Germany
    Cancer Immunol Immunother 62:27-37. 2013
    ..Our data suggest that the analyzed FSP may represent an immunologically relevant pool of antigens capable of eliciting antitumoral effector T cell responses...
  17. ncbi request reprint The putative tumor suppressor AIM2 is frequently affected by different genetic alterations in microsatellite unstable colon cancers
    Stefan M Woerner
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220 221, D 69120 Heidelberg, Germany
    Genes Chromosomes Cancer 46:1080-9. 2007
    ....
  18. doi request reprint Coding microsatellite instability analysis in microsatellite unstable small intestinal adenocarcinomas identifies MARCKS as a common target of inactivation
    Sara Michel
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, 69120 Heidelberg, Germany
    Mol Carcinog 49:175-82. 2010
    ..Loss of MARCKS protein expression suggests a significant role of MARCKS inactivation in the pathogenesis of small intestinal adenocarcinomas...
  19. doi request reprint Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?
    Christina Evers
    Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany
    Fam Cancer 11:529-33. 2012
    ..Surprisingly, the mutation was neither found in both parents, nor in the tissue samples of the sister. We outline the impact of this finding for genetic counselling and review the literature on FAP and HB...
  20. doi request reprint Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome
    Miriam Reuschenbach
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, 69120, Heidelberg, Germany
    Fam Cancer 9:173-9. 2010
    ..Based on the high number of defined FSP antigens, measuring FSP-specific humoral immune responses is a highly promising tool for future diagnostic application in MSI-H cancer patients...
  21. doi request reprint Genetics and epigenetics of small bowel adenocarcinoma: the interactions of CIN, MSI, and CIMP
    Arne Warth
    Department of Pathology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Mod Pathol 24:564-70. 2011
    ....
  22. doi request reprint Localization and density of immune cells in the invasive margin of human colorectal cancer liver metastases are prognostic for response to chemotherapy
    Niels Halama
    Medical Oncology, National Center for Tumor Diseases, University Hospital Heidelberg, Germany
    Cancer Res 71:5670-7. 2011
    ....
  23. ncbi request reprint Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers
    Matthias Kloor
    Institute of Molecular Pathology, University of Heidelberg, Germany
    Cancer Res 65:6418-24. 2005
    ....
  24. doi request reprint Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3
    Rongxi Yang
    Molecular Epidemiology, German Cancer Research Center DKFZ, 69120 Heidelberg, Germany
    Carcinogenesis 35:315-23. 2014
    ..In conclusion, this is the first study to reveal the contribution of the overall burden of CNVs to familial CRC risk and identify a novel rare structural variation at 12p12.3 containing RERGL gene to be associated with CRC. ..
  25. ncbi request reprint T25 repeat in the 3' untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer
    Peter Findeisen
    Department of Pathology, Institute of Molecular Pathology, University of Heidelberg, Germany
    Cancer Res 65:8072-8. 2005
    ..Moreover, CAT25 represents a highly promising marker for early detection of colorectal cancer in HNPCC germ line mutation carriers...
  26. doi request reprint Overexpression of ZEB2 at the invasion front of colorectal cancer is an independent prognostic marker and regulates tumor invasion in vitro
    Christoph Kahlert
    Department of General, Visceral and Transplantation Surgery, Institute of Pathology, University of Heidelberg, and German Cancer Research Center, Division of Biostatistics, Heidelberg, Germany
    Clin Cancer Res 17:7654-63. 2011
    ..The aim of this study was to explore the expression of EMT-associated genes at the invasive front in colorectal cancer and to evaluate their prognostic significance...
  27. ncbi request reprint Recurrent deletions at 6q in early age of onset non-HNPCC- and non-FAP-associated intestinal carcinomas. Evidence for a novel cancer susceptibility locus at 6q14-q22
    Hendrik Blaker
    Department of Pathology, University of Heidelberg, Heidelberg, Germany
    Genes Chromosomes Cancer 47:159-64. 2008
    ..Moreover, deletions of identical parental alleles in a 35 Mbp area at 6q in multiple independent tumors from one of the patients are compatible with the existence of a novel 6q-associated cancer susceptibility syndrome...
  28. doi request reprint Immune evasion of microsatellite unstable colorectal cancers
    Matthias Kloor
    Department of Applied Tumor Biology, Institute of Pathology, University of Heidelberg, Molecular Medicine Partnership Unit MMPU, Heidelberg, Germany
    Int J Cancer 127:1001-10. 2010
    ....
  29. doi request reprint Body mass index and microsatellite instability in colorectal cancer: a population-based study
    Michael Hoffmeister
    Authors Affiliations Division of Clinical Epidemiology and Aging Research Unit of Genetic Epidemiology, German Cancer Research Center DKFZ Department of Pathology, Institute of Pathology Department of Applied Tumor Biology, Institute of Pathology, Heidelberg University Hospital National Center for Tumor Diseases NCT Tissue Bank, Heidelberg and Institute of Pathology, Charite University Medicine, Berlin, Germany
    Cancer Epidemiol Biomarkers Prev 22:2303-11. 2013
    ..However, information from population-based studies conducted in representative age groups is so far limited...
  30. doi request reprint Colonic carcinogenesis along different genetic routes: glycophenotyping of tumor cases separated by microsatellite instability/stability
    Johannes Gebert
    Abteilung Angewandte Tumorbiologie, Universitaetsklinikum Heidelberg, Im Neuenheimer Feld 220 221, 69120 Heidelberg, Germany
    Histochem Cell Biol 138:339-50. 2012
    ....
  31. pmc The localization and density of immune cells in primary tumors of human metastatic colorectal cancer shows an association with response to chemotherapy
    Niels Halama
    Medical Oncology, National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany
    Cancer Immun 9:1. 2009
    ..This suggests that immune infiltrates at the invasive margin of liver metastases could be predictive with respect to response to treatment. This is currently being evaluated in a larger patient cohort...
  32. ncbi request reprint Microsatellite instability in the development of DNA mismatch repair deficient tumors
    Stefan M Woerner
    Department of Applied Tumor Biology, Institute of Pathology, Im Neuenheimer Feld 220 221, D 69120 Heidelberg, Germany
    Cancer Biomark 2:69-86. 2006
    ..Knowledge about the biological impact of microsatellite mutations in these genes will potentially help to develop modified clinical concepts for diagnosis, prevention, and treatment of microsatellite unstable human cancers...
  33. ncbi request reprint Colorectal cancer
    Hermann Brenner
    Division of Clinical Epidemiology and Aging Research, German Cancer Research Center DKFZ, Heidelberg, Germany German Cancer Consortium DKTK, Heidelberg, Germany Electronic address
    Lancet 383:1490-502. 2014
    ..Screening has been shown to reduce colorectal cancer incidence and mortality, but organised screening programmes are still to be implemented in most countries...
  34. ncbi request reprint 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
    ....
  35. doi request reprint BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer
    David Capper
    Department of Neuropathology, Institute of Pathology, University Hospital Heidelberg and Clinical Cooperation Unit Neuropathology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Int J Cancer 133:1624-30. 2013
    ..Therefore, we suggest the integration of VE1 immunohistochemistry into the diagnostic panel of Lynch syndrome. ..
  36. doi request reprint High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability
    Nina Roeckel
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital, Im Neuenheimer Feld 220 221, Heidelberg, Germany
    Cancer Res 69:292-9. 2009
    ..These results suggest that LMAN1 mutational inactivation is a frequent and early event potentially contributing to MSI-H tumorigenesis...
  37. doi request reprint A gene signature distinguishing CD133hi from CD133- colorectal cancer cells: essential role for EGR1 and downstream factors
    Aurélie Ernst
    Division of Molecular Genetics, German Cancer Research Center, University of Heidelberg, Heidelberg, Germany
    Pathology 43:220-7. 2011
    ..The CD133 epitope AC133 allowed isolating stem cells from normal and cancerous tissues, although its use in colon was questioned. We aimed to identify differences between AC133 and AC133 cells...
  38. doi request reprint Dendritic cell and macrophage infiltration in microsatellite-unstable and microsatellite-stable colorectal cancer
    Kathrin Bauer
    Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220, 69120, Heidelberg, Germany
    Fam Cancer 10:557-65. 2011
    ..Moreover, impaired DC maturation might contribute to local immune evasion in CRC...
  39. doi request reprint Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families
    Bernd Frank
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
    Cancer Lett 271:153-7. 2008
    ..No associations of any of the 10 nsSNPs with colorectal cancer could be replicated. The combined analyses indicated that further research based on additional independent samples is required...
  40. ncbi request reprint Regulation of AKT1 expression by beta-catenin/Tcf/Lef signaling in colorectal cancer cells
    Susanne Dihlmann
    Institute of Molecular Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220 221, D 69120 Heidelberg, Germany
    Carcinogenesis 26:1503-12. 2005
    ..In summary our data suggest that beta-catenin/Tcf contributes to the transcriptional regulation of the AKT1 gene...
  41. ncbi request reprint Tetranucleotide repeats in coding regions: no evidence for involvement in EMAST carcinogenesis
    Matthias Kloor
    Institute of Molecular Pathology, University of Heidelberg, Germany
    J Mol Med (Berl) 84:329-33. 2006
    ..These data suggest that mutational inactivation of tetranucleotide-containing genes is very unlikely to contribute to the progression of EMAST tumors...
  42. ncbi request reprint Microsatellite instability in pediatric and adult high-grade gliomas
    Anika Eckert
    Department of Applied Tumor Biology, University Hospital Heidelberg, Heidelberg, Germany
    Brain Pathol 17:146-50. 2007
    ..Overall, we observed a much lower incidence of MSI among high-grade pediatric gliomas than initially reported and suggest that MMR deficiency does not play a major role in the pathogenesis of glial neoplasms...
  43. doi request reprint Towards a vaccine to prevent cancer in Lynch syndrome patients
    Magnus von Knebel Doeberitz
    Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 224, Heidelberg, Germany
    Fam Cancer 12:307-12. 2013
    ..In addition, clinical perspectives will be discussed, focusing on MSI-H cancer-associated FSP antigens as potential targets for immune therapy approaches. ..
  44. pmc A phase II study for metabolic in vivo response monitoring with sequential 18FDG-PET-CT during treatment with the EGFR-monoclonal-antibody cetuximab in metastatic colorectal cancer: the Heidelberg REMOTUX trial
    Anne Katrin Berger
    National Center for Tumor Diseases, University Medical Center Heidelberg, Heidelberg, Germany
    BMC Cancer 12:108. 2012
    ..Early clinical response will be routinely measured according to the response evaluation criteria in solid tumors. Accompanying research includes cytokine immune monitoring and analysis of tumor proteins and tumor genes...
  45. ncbi request reprint A large MSH2 Alu insertion mutation causes HNPCC in a German kindred
    Matthias Kloor
    Institute of Molecular Pathology, Department of Pathology, University of Heidelberg, INF 220 221, 69120, Heidelberg, Germany
    Hum Genet 115:432-8. 2004
    ..This is the first report of an Alu insertion in the coding sequence of a MMR gene as the cause of HNPCC. Our data thus further extend the spectrum of MMR gene mutations causative for HNPCC...
  46. pmc Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis
    Giuseppe Giuffre
    Department of Human Pathology, University of Messina, Messina, Italy
    J Mol Diagn 7:160-70. 2005
    ..This suggests that in some adenomas development of MMR dysfunction occurs stepwise with MSI, arising before complete loss of MMR gene expression, whereas other HNPCC-associated adenomas might develop independently of MMR deficiency...
  47. ncbi request reprint 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
    ....
  48. 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...
  49. 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...
  50. pmc Mutations in both KRAS and BRAF may contribute to the methylator phenotype in colon cancer
    Takeshi Nagasaka
    Division of Gastroenterology, Department of Internal Medicine, and Charles A Sammons Cancer Center and Baylor Research Institute, Baylor University Medical Center, Dallas, Texas 75246, USA
    Gastroenterology 134:1950-60, 1960.e1. 2008
    ..Because BRAF and KRAS belong to same signaling pathway, we hypothesized that not only mutations in BRAF but mutant KRAS may also associate with CIMP in CRC...
  51. ncbi request reprint 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...
  52. doi request reprint No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients
    Verena Steinke
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Hum Genet 16:587-92. 2008
    ..30) nor in different subgroups regarding mutation type. Our results do not support the association between MSH6 mutations and heterozygosity for MUTYH mutations...
  53. ncbi request reprint Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study
    Annegret Müller
    Department of General Surgery, University of Gottingen, Gottingen, Germany
    Int J Colorectal Dis 21:632-41. 2006
    ..Therefore, screening for MMR deficiency should not be applied routinely in adenomas with the goal to identify HNPCC patients...