Research Topics
Genomes and GenesSpecies | Waltraut FriedlSummaryAffiliation: University of Bonn Country: Germany Publications
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Detail Information
Publications
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patientsWaltraut Friedl
Institute of Human Genetics, University of Bonn, Germany
Hered Cancer Clin Pract 3:95-114. 2005..The discovery of autosomal-recessive MUTYH-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated...
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriersWaltraut Friedl
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Germany
Hum Genet 111:108-11. 2002..This is the first genotype-phenotype correlation observed in JPS...- Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variantsConstanze Pagenstecher
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
Hum Genet 119:9-22. 2006..4G > A, MSH2,c.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... - Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genesYaping 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... - Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 stainingElisabeth 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... - Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancerElisabeth Mangold
Institute of Human Genetics, University Hospital Bonn, Germany
Int J Cancer 116:692-702. 2005.... - Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndromeNils Rahner
Institute of Human Genetics, University of Bonn, Germany
Acta Oncol 46:763-9. 2007..The findings underline the importance of a pre-screening of tumor tissue for an efficient definition of conspicuous cases... - Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)Stefan Aretz
Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany
Hum Mutat 28:985-92. 2007..Some of the deviations from the expected phenotype in FAP can be explained by the presence of somatic mosaicism... - Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening testMicaela Mathiak
Institute of Pathology, University of Bonn, Bonn, Germany
Am J Surg Pathol 26:338-43. 2002..In conclusion, our findings demonstrate that immunohistochemical testing of MTS-related skin tumors is a reliable screening method with high predictive value for the diagnosis of the DNA mismatch repair-deficient MTS... - Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?Stefan Aretz
Institute of Human Genetics, University of Bonn, Wilhelmstrasse, Bonn, Germany
Pediatr Blood Cancer 47:811-8. 2006..Only limited data exist about the frequency of APC germline mutations in cases of apparently sporadic HB without a family history of FAP... - A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplificationConstanze 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... 
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosusNils Rahner
Institute of Human Genetics, University of Bonn, Bonn, Germany
Am J Med Genet A 146:1314-9. 2008....- Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genesMaria 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... - Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC geneStefan 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... - High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeStefan 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... - Frequency and parental origin of de novo APC mutations in familial adenomatous polyposisStefan 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)... - MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotypeStefan 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... - Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann
Institute of Human Genetics, Bonn, Germany
J Mol Diagn 11:131-9. 2009..Our study shows that the characterization of rare variants at the mRNA level is crucial for the evaluation of pathogenicity and underlying mutational mechanisms, and could lead to better treatment modalities... - Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposisChristof Lamberti
Institute of Human Genetics, University of Bonn, Bonn, Germany
Pharmacogenetics 12:49-54. 2002..Combinations of supposed at risk genotypes of the three enzymes showed no significant differences either. Thus, NAT2, GSTM1, or GSTT1 are unlikely to modify the disease phenotype in FAP patients... - A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1Yaping Wang
Institute of Human Genetics, University of Bonn, Bonn, Germany
Hum Mutat 19:279-86. 2002..These results indicate that our modified multiplex PCR assay is suited for the detection of large deletions both in the MSH2 and MLH1 gene and therefore represents an additional valuable tool for mutation screening in HNPCC families... - Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancerStefan 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... - May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?Xiaorong Liu
Department of Genetics, Medical School, South East University, Nanjing, PR China
Acta Oncol 46:757-62. 2007..The somatic mutations of APC gene may influence the clinical features of sporadic CRC. Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC... - Large genomic aberrations in MSH2 and MLH1 genes are frequent in Chinese colorectal cancerMing Zhu
Department of Molecular Biology, Jiangsu Institute of Cancer Research, Nanjing 210009, People's Republic of China
Cancer Genet Cytogenet 160:61-7. 2005..Moreover, the genomic aberrations in these genes might also be a frequent cause of CRC at a young age in China... - Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Pascal H G Duijf
Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 11:799-804. 2002..Our results further show that p63 contains a second transactivation domain which is normally repressed and can become activated by mutations in the DNA binding domain of p63... - Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposisBettina Burger
Am J Med Genet 110:289-91. 2002 - Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control studyStefan Kruger
Department of Surgical Research, Dresden University of Technology, Dresden, Germany
Lancet Oncol 6:566-72. 2005....