Stefan Aretz

Stefan Aretz

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Stefan Aretz

Stefan Aretz

Publications by authors named "Stefan Aretz"

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS.

Genes Chromosomes Cancer 2019 06 23;58(6):357-364. Epub 2019 Jan 23.

Department of Ophthalmology, Division of Ophthalmic Pathology, University Hospital Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/gcc.22724DOI Listing
June 2019

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.

Geburtshilfe Frauenheilkd 2018 Nov 26;78(11):1089-1109. Epub 2018 Nov 26.

Klinik für Gynäkologie und Geburtshilfe, Universitätsmedizin Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1055/a-0715-2964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261739PMC
November 2018

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 10 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

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http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
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http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.

Geburtshilfe Frauenheilkd 2018 Oct 19;78(10):949-971. Epub 2018 Oct 19.

Klinik für Gynäkologie und Geburtshilfe, Universitätsmedizin Göttingen, Göttingen, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0713-1218
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http://dx.doi.org/10.1055/a-0713-1218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195426PMC
October 2018

[Outcomes after Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer].

Zentralbl Chir 2018 Aug 1. Epub 2018 Aug 1.

Klinik und Poliklinik für Allgemein-, Viszeral-, Thorax- und Gefäßchirurgie, Universitätsklinikum Bonn.

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http://dx.doi.org/10.1055/a-0646-4382DOI Listing
August 2018

Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy.

Am J Gastroenterol 2018 04;113(4):625-627

Department of Medicine II, Saarland University Medical Center, Homburg/Saar, Germany.

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http://dx.doi.org/10.1038/ajg.2018.19DOI Listing
April 2018

Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS).

Eur J Pediatr 2018 Mar 22;177(3):429-435. Epub 2017 Dec 22.

Pediatric Endocrinology and Diabetology Division, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.

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http://dx.doi.org/10.1007/s00431-017-3067-9DOI Listing
March 2018

Prophylactic total gastrectomy in the management of hereditary tumor syndromes.

Int J Colorectal Dis 2016 Dec 28;31(12):1825-1833. Epub 2016 Sep 28.

Department of General, Visceral, Thoracic and Vascular Surgery, University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1007/s00384-016-2656-9DOI Listing
December 2016

Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.

Endosc Int Open 2016 Dec 31;4(12):E1305-E1310. Epub 2016 Aug 31.

Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.

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http://dx.doi.org/10.1055/s-0042-112582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161122PMC
December 2016

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.

Eur J Hum Genet 2015 Jun 24;23(6). Epub 2014 Sep 24.

INSERM UMR_S 910, Faculté de Médecine La Timone, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2014.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795070PMC
June 2015

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

Carcinogenesis 2015 Feb 4;36(2):202-11. Epub 2014 Dec 4.

Biomedical Research Laboratory, Department of Internal Medicine 1 and Department of Human Genetics, Universitätsklinikum Frankfurt, Frankfurt D-60590, Germany, Institute of Human Genetics, University of Bonn, Bonn D-53127, Germany and Department of Internal Medicine 1, Universitätsklinikum Frankfurt D-60590, Frankfurt, Germany

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http://dx.doi.org/10.1093/carcin/bgu239DOI Listing
February 2015

Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

Eur J Hum Genet 2011 Jul 2;19(7). Epub 2011 Feb 2.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137508PMC
July 2011

De novo microduplication at 22q11.21 in a patient with VACTERL association.

Eur J Med Genet 2011 Jan-Feb;54(1):9-13. Epub 2010 Sep 16.

Institute of Human Genetics, Department of Genomics, Life & Brain Center, University of Bonn, and Department of Neonatology, Children's Hospital, Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.001DOI Listing
June 2011

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.

Eur J Hum Genet 2010 Sep 26;18(9). Epub 2010 May 26.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987431PMC
September 2010

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis.

Eur J Hum Genet 2010 Sep 26;18(9). Epub 2010 May 26.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987420PMC
September 2010

The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.

Authors:
Stefan Aretz

Dtsch Arztebl Int 2010 Mar 12;107(10):163-73. Epub 2010 Mar 12.

Institut für Humangenetik, Biomedizinisches Zentrum (BMZ), Universitätsklinikum Bonn, Siegmund-Freud-Strasse 25, Bonn, Germany.

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http://dx.doi.org/10.3238/arztebl.2010.0163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847323PMC
March 2010

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Gastroenterology 2009 Dec 2;137(6):1976-85.e1-10. Epub 2009 Sep 2.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1053/j.gastro.2009.08.052DOI Listing
December 2009

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

J Cancer Res Clin Oncol 2009 Oct 15;135(10):1463-70. Epub 2009 May 15.

Pathology Division, University Hospital of Oslo-Rikshospitalet, N0027 Oslo, Norway.

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http://dx.doi.org/10.1007/s00432-009-0594-4DOI Listing
October 2009

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

Gastroenterology 2009 Aug 23;137(2):489-94, 494.e1; quiz 725-6. Epub 2009 Apr 23.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00165085090056
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http://dx.doi.org/10.1053/j.gastro.2009.04.047DOI Listing
August 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

Gastroenterology 2009 Feb 30;136(2):471-6. Epub 2008 Oct 30.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2008.10.056DOI Listing
February 2009

Opinion on moderate/low cancer genetic risk markers in medical practice.

Hered Cancer Clin Pract 2008 Jun 15;6(2):61-3. Epub 2008 Jun 15.

Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1186/1897-4287-6-2-61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735184PMC
June 2008

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families.

Int J Cancer 2008 Mar;122(6):1422-5

Molecular Oncology Group, Molecular Biology and Biochemistry Research Center (CIBBIM), Nanomedicine Research Program, Vall d'Hebron Hospital Research Institute, Barcelona, Spain.

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http://dx.doi.org/10.1002/ijc.23247DOI Listing
March 2008

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Hum Mutat 2007 Oct;28(10):985-92

Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/humu.20549DOI Listing
October 2007

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Hum Genet 2006 Mar 8;119(1-2):9-22. Epub 2005 Dec 8.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-005-0107-8DOI Listing
March 2006

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hered Cancer Clin Pract 2005 Sep 15;3(3):95-114. Epub 2005 Sep 15.

Institute of Human Genetics, University of Bonn, Germany.

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http://hccpjournal.biomedcentral.com/articles/10.1186/1897-4
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http://dx.doi.org/10.1186/1897-4287-3-3-95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837297PMC
September 2005

Endogenous distress in ventilated full-term newborns with acute respiratory failure.

Biol Neonate 2004 16;85(4):243-8. Epub 2004 Jan 16.

Department of Neonatology, Children's Hospital, University of Cologne, Cologne, Germany.

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https://www.karger.com/Article/FullText/76238
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http://dx.doi.org/10.1159/000076238DOI Listing
December 2004