S Aretz

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi Gene symbol: MUTYH
    S Aretz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  2. ncbi Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study
    Frank Grunhage
    Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Bonn, Germany
    BMC Med Genet 9:70. 2008
  3. 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  7. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:918. 2007
  8. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  9. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Bonn, Germany
    Hum Genet 120:908. 2007
  10. 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

Detail Information

Publications31

  1. ncbi Gene symbol: MUTYH
    S Aretz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  2. ncbi Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study
    Frank Grunhage
    Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Bonn, Germany
    BMC Med Genet 9:70. 2008
    ..Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy...
  3. 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)...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  7. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:918. 2007
  8. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 120:914. 2007
  9. ncbi Gene symbol: MUTYH
    S Aretz
    University of Bonn, Institute of Human Genetics, Bonn, Germany
    Hum Genet 120:908. 2007
  10. 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...
  11. ncbi Endogenous distress in ventilated full-term newborns with acute respiratory failure
    Stefan Aretz
    Department of Neonatology, Children s Hospital, University of Cologne, Cologne, Germany
    Biol Neonate 85:243-8. 2004
    ..Until now, however, the factors which influence endogenous, disease-related distress have been largely ignored...
  12. ncbi 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...
  13. 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...
  14. ncbi Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    Stefanie Vogt
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Gastroenterology 137:1976-85.e1-10. 2009
    ..MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported...
  15. 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...
  16. ncbi [The genetic revolution-impact on therapy and prevention]
    P Propping
    Institut fur Humangenetik, Rheinische Friedrich Wilhelms Universitat Bonn
    Internist (Berl) 45:S6-14. 2004
    ..This applies e. g. to various familial cancer predispositions. In the future, medical doctors should be able to apply genetic risk figures and to convey them to their patients...
  17. ncbi 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
  18. ncbi Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer
    Frank Grunhage
    Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Bonn, Germany
    Cancer Biomark 4:55-61. 2008
    ..Our aim was to determine the frequency of the most common mutations (p.Tyr165Cys and p.Gly382Asp) in patients with strong evidence for familial colorectal cancer (fCRC)...
  19. ncbi Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus
    Nils Rahner
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 146:1314-9. 2008
    ....
  20. ncbi Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients
    Waltraut 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...
  21. ncbi 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...
  22. ncbi The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes
    Stefan Aretz
    Institut fur Humangenetik, Biomedizinisches Zentrum BMZ, Universitatsklinikum Bonn, Siegmund Freud Strasse 25, Bonn, Germany
    Dtsch Arztebl Int 107:163-73. 2010
    ..The early detection and accurate classification of these syndromes are essential, since effective methods for surveillance and treatment are available...
  23. 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
    ..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...
  24. 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...
  25. 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...
  26. ncbi Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome
    Nils 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...
  27. ncbi Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes
    Frank Grunhage
    Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Int J Colorectal Dis 23:147-54. 2008
    ....
  28. ncbi Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review
    Astrid 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...
  29. ncbi 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...
  30. ncbi 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...
  31. ncbi Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families
    Jordi Romero-Gimenez
    Molecular Oncology Group, Molecular Biology and Biochemistry Research Center CIBBIM, Nanomedicine Research Program, Vall d Hebron Hospital Research Institute, Barcelona, Spain
    Int J Cancer 122:1422-5. 2008
    ..These results substantially contribute to clarify the potential role of germline epimutations as a cause of inherited predisposition to cancer...