Research Topics
Genomes and GenesSpecies | W FriedlSummaryAffiliation: University of Bonn Country: Germany Publications
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Detail Information
Publications
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP familiesW 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...
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndromeN 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...- High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndromeS 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... - 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 cancerC 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... - 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 criteriaR Kruse
Institute of Human Genetics, Friedrich Wilhelms University, Bonn, Germany
Am J Hum Genet 63:63-70. 1998.... - Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genesM Wehner
Institute of Human Genetics, University of Bonn, Germany
Hum Mutat 10:241-4. 1997 - Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in GermanyC 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... - 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 - Detection of APC and k-ras mutations in the serum of patients with colorectal cancerH 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... - Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patientsW Friedl
Institute of Human Genetics, University of Bonn, Bonn, Germany
Genes Chromosomes Cancer 25:403-6. 1999..Genes Chromosomes Cancer 25:403-406, 1999... - 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... 
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patientsVerena 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...- 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 tissueY 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... - Muir-Torre syndrome: clinical features and molecular genetic analysisC 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... - [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... - Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposisS Aretz
J Med Genet 42:185-92. 2005 - A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndromeE Mangold
J Med Genet 41:567-72. 2004 - 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 expressionM 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... - Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriersAnnegret Müller
Department of General Surgery, University of Gottingen, Gottingen, Germany
Virchows Arch 453:9-16. 2008.... - Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumorsA 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... - [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... - 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 FAPI 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... - 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... - 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... - A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardationJ 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...