W Friedl

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. pmc Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    W Friedl
    Institute of Human Genetics, University of Bonn, Germany
    Gut 48:515-21. 2001
  2. ncbi request reprint Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
    N Rahner
    Institute of Human Genetics, University of Bonn, Germany
    J Pathol 214:10-6. 2008
  3. pmc High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
    S Aretz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    J Med Genet 44:702-9. 2007
  4. pmc Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer
    C Lamberti
    Department of Internal Medicine, University of Bonn, Bonn, Germany
    Gut 44:839-43. 1999
  5. pmc Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria
    R Kruse
    Institute of Human Genetics, Friedrich Wilhelms University, Bonn, Germany
    Am J Hum Genet 63:63-70. 1998
  6. ncbi request reprint Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes
    M Wehner
    Institute of Human Genetics, University of Bonn, Germany
    Hum Mutat 10:241-4. 1997
  7. ncbi request reprint Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany
    C Lamberti
    Department of Internal Medicine I, University of Bonn, Bonn, Germany
    Digestion 74:58-67. 2006
  8. ncbi request reprint MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
    E Mangold
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Br J Dermatol 156:158-62. 2007
  9. ncbi request reprint Detection of APC and k-ras mutations in the serum of patients with colorectal cancer
    H Lauschke
    Department of Surgery, University of Bonn, Germany
    Cancer Detect Prev 25:55-61. 2001
  10. ncbi request reprint Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients
    W Friedl
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Genes Chromosomes Cancer 25:403-6. 1999

Detail Information

Publications25

  1. pmc Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    W Friedl
    Institute of Human Genetics, University of Bonn, Germany
    Gut 48:515-21. 2001
    ..While mutation analysis is important for predictive diagnosis in persons at risk, its relevance for clinical management of individual patients is open to question...
  2. ncbi request reprint Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
    N Rahner
    Institute of Human Genetics, University of Bonn, Germany
    J Pathol 214:10-6. 2008
    ..Hypermethylation of the MLH1 promoter may be present in most cases of sporadic colorectal cancers, but this does not exclude a diagnosis of Lynch syndrome...
  3. pmc High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
    S Aretz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    J Med Genet 44:702-9. 2007
    ..In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown...
  4. pmc Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer
    C Lamberti
    Department of Internal Medicine, University of Bonn, Bonn, Germany
    Gut 44:839-43. 1999
    ..As molecular genetic testing is predominantly restricted to these families, gene carriers not meeting the clinical criteria may be missed...
  5. pmc Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria
    R Kruse
    Institute of Human Genetics, Friedrich Wilhelms University, Bonn, Germany
    Am J Hum Genet 63:63-70. 1998
    ....
  6. ncbi request reprint Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes
    M Wehner
    Institute of Human Genetics, University of Bonn, Germany
    Hum Mutat 10:241-4. 1997
  7. ncbi request reprint Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany
    C Lamberti
    Department of Internal Medicine I, University of Bonn, Bonn, Germany
    Digestion 74:58-67. 2006
    ..This project aims at estimating the proportion of HNPCC among unselected patients with CRC...
  8. ncbi request reprint MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
    E Mangold
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Br J Dermatol 156:158-62. 2007
  9. ncbi request reprint Detection of APC and k-ras mutations in the serum of patients with colorectal cancer
    H Lauschke
    Department of Surgery, University of Bonn, Germany
    Cancer Detect Prev 25:55-61. 2001
    ..Given their higher detection rate, APC mutations could be a more informative serum marker than k-ras in CRC patients...
  10. ncbi request reprint Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients
    W Friedl
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Genes Chromosomes Cancer 25:403-6. 1999
    ..Genes Chromosomes Cancer 25:403-406, 1999...
  11. ncbi request reprint ADULT syndrome allelic to limb mammary syndrome (LMS)?
    P Propping
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet 90:179-82. 2000
    ..82 at straight theta = 0.00 with marker D3S1288. Our results place the ADULT locus to the same chromosomal region where LMS was mapped, suggesting that these two conditions are allelic...
  12. 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...
  13. ncbi request reprint Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue
    Y Wang
    Institute of Human Genetics, University of Bonn, Germany
    Hum Genet 100:362-4. 1997
    ..Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family...
  14. ncbi request reprint Muir-Torre syndrome: clinical features and molecular genetic analysis
    C Esche
    Department of Dermatology, Heinrich Heine University, Duesseldorf, Germany
    Br J Dermatol 136:913-7. 1997
    ..The search for a causal germline mutation revealed a frameshift mutation in the mismatch repair gene hMSH2 leading to a truncated protein. A presymptomatic molecular diagnosis can be offered to the children of the patient...
  15. ncbi request reprint [Detection of germline mutations in the APC gene with the protein truncation test]
    Xiao Rong Liu
    Laboratory of Medical Genetics, Medical School, Nanjing University, Nanjing 210093, China
    Yi Chuan Xue Bao 32:903-8. 2005
    ..The protein truncation test is a sensitive and accurate technique to detect truncated mutations especially in the large exons of APC gene. It can be used as an routine method for assisting the early diagnosis of the FAP patients...
  16. pmc Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis
    S Aretz
    J Med Genet 42:185-92. 2005
  17. pmc A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome
    E Mangold
    J Med Genet 41:567-72. 2004
  18. ncbi request reprint E-cadherin expression is homogeneously reduced in adenoma from patients with familial adenomatous polyposis: an immunohistochemical study of E-cadherin, beta-catenin and cyclooxygenase-2 expression
    M Jungck
    Department of Internal Medicine I, University Hospital Bonn, Sigmund Freud Strasse 25, Bonn, Germany
    Int J Colorectal Dis 19:438-45. 2004
    ..To characterise the expression pattern of these proteins in FAP in comparison with sporadic adenomas, we studied 18 FAP-associated adenomas, 16 sporadic adenomas and seven normal colonic controls...
  19. doi request reprint Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers
    Annegret Müller
    Department of General Surgery, University of Gottingen, Gottingen, Germany
    Virchows Arch 453:9-16. 2008
    ....
  20. ncbi request reprint Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors
    A Koch
    Department of Neuropathology, University of Bonn Medical Center; Bonn, Germany
    Int J Cancer 93:445-9. 2001
    ..Our data indicate that inappropriate activation of the WNT/wingless signaling pathway by mutations of its components may contribute to the pathogenesis of a subset of PNETs...
  21. ncbi request reprint [Hereditary colorectal carcinoma: predictive diagnosis and genetic counseling]
    E Mangold

    Praxis (Bern 1994) 90:490-6. 2001
    ..Accordingly the German Bundesärztekammer has worked out guidelines for predictive genetic testing in hereditary tumours...
  22. ncbi request reprint Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP
    I Nimmrich
    Max Planck Institut fur molekulare Physiologie, Dortmund, Germany
    Hum Genet 100:345-9. 1997
    ..However, a germline mutation was observed in one patient with an apparently sporadic colorectal tumor; the wildtype allele was somatically lost in the tumor of this patient...
  23. pmc Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    H F A Vasen
    Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
    J Med Genet 44:353-62. 2007
    ..The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families...
  24. doi request reprint Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    H F A Vasen
    Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
    Gut 57:704-13. 2008
    ..The guidelines described herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken...
  25. ncbi request reprint A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation
    J Raedle
    2nd Department of Internal Medicine and Institute of Human Genetics, University of Frankfurt/Main, Frankfurt am Main, Germany
    Am J Gastroenterol 96:3016-20. 2001
    ..If the deletion encompasses the APC gene, these patients are at high risk of developing FAP and associated complications...