Frederik J Hes

Frederik J Hes

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Frederik J Hes

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The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material.

Eur J Hum Genet 2019 Oct 15. Epub 2019 Oct 15.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0527-xDOI Listing
October 2019

Mathematical Models for Tumor Growth and the Reduction of Overtreatment.

J Neurol Surg B Skull Base 2019 Feb 23;80(1):72-78. Epub 2018 Jul 23.

Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1055/s-0038-1667148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365230PMC
February 2019

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

High Growth Rate of Pancreatic Ductal Adenocarcinoma in Mutation Carriers.

Cancer Prev Res (Phila) 2018 09 10;11(9):551-556. Epub 2018 Jul 10.

Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, the Netherlands.

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http://dx.doi.org/10.1158/1940-6207.CAPR-18-0035DOI Listing
September 2018

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information.

Stat Methods Med Res 2019 Oct-Nov;28(10-11):2924-2936. Epub 2018 Aug 3.

Department of Otorhinolaryngology - Head and Neck Surgery, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1177/0962280218791338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745609PMC
August 2018

Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.

J Neurol Surg B Skull Base 2017 Dec 31;78(6):497-505. Epub 2017 Jul 31.

Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1055/s-0037-1604347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680030PMC
December 2017

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

PLoS One 2015 16;10(3):e0119030. Epub 2015 Mar 16.

Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119030PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361563PMC
January 2016

No evidence for increased mortality in SDHD variant carriers compared with the general population.

Eur J Hum Genet 2015 Dec 11;23(12):1713-6. Epub 2015 Mar 11.

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795211PMC
December 2015

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

Gastroenterology 2015 Oct 11;149(4):897-906.e19. Epub 2015 Jun 11.

Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.06.003DOI Listing
October 2015

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

J Clin Endocrinol Metab 2015 Oct 10;100(10):E1386-93. Epub 2015 Aug 10.

Department of Endocrinology and Metabolic Diseases (N.D.N., E.P.M.C.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Department of Pathology (T.G.P., E.K., L.O., W.N.M.D., R.R.d.K.) Erasmus Medical Center, 3015 CE Rotterdam, The Netherlands; Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; and Departments of Pathology (H.M.), Human Genetics (J.P.B.), Clinical Genetics (F.J.H.), and Otorhinolaryngology (J.C.J.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2015-2689DOI Listing
October 2015

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

J Clin Oncol 2015 Feb 15;33(4):319-25. Epub 2014 Dec 15.

Sanne W. ten Broeke, Carli M. Tops, Heleen M. van der Klift, Manon Suerink, Frederik J. Hes, Hans F. Vasen, Maartje Nielsen, and Juul T. Wijnen, Leiden University Medical Center; Hans F. Vasen, The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden; Richard M. Brohet, Research Center Linnaeus Institute, Spaarne Hospital, Hoofddorp; Mary E. Velthuizen and Tom G.W. Letteboer, University Medical Center Utrecht, Utrecht; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Fred H. Menko, Vrije Universiteit, University Medical Center; Theo A. van Os and Bert J.W. Redeker, Academic Medical Center, Amsterdam; Rolf H. Sijmons and Yvonne J. Vos, University of Groningen, University Medical Center Groningen, Groningen; Anja Wagner, Erasmus University Medical Center, Rotterdam, the Netherlands; Inge Bernstein, Aalborg University Hospital, Aalborg; Inge Bernstein, Danish Hereditary Nonpolyposis Colorectal Cancer Registry, Hvidovre University Hospital Copenhagen, Denmark; Gabriel Capellá Munar, Hereditary Cancer Program, Catalan Institute of Oncology-Institut D'Investigació Biomèdica de Bellvitge, l'Hospitalet de Llobregat, Spain; Annika Lindblom, Karolinska Institutet, Karolinska University Hospital, Solna; Pal Moller, Research Group Inherited Cancer, Oslo University Hospital, Oslo, Norway; and Nils Rahner, Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany.

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http://dx.doi.org/10.1200/JCO.2014.57.8088DOI Listing
February 2015

Phenotype of SDHB mutation carriers in the Netherlands.

Fam Cancer 2014 Dec;13(4):651-7

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands,

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http://dx.doi.org/10.1007/s10689-014-9738-zDOI Listing
December 2014

Response.

J Natl Cancer Inst 2014 Apr 26;106(5). Epub 2014 Apr 26.

Affiliations of authors: Institute of Cancer and Genetics (CGS, HW, RH, SI, JPC) and Institute of Psychological Medicine and Clinical Neurosciences (VM), School of Medicine, Cardiff University, Cardiff, UK; Gray Institute for Radiation Oncology and Biology, University of Oxford, Oxford, UK (TSM); MRC Clinical Trials Unit, London, UK (RK); Wellcome Trust Brenner Building, St James' University Hospital, University of Leeds, Leeds, UK (SR, PQ, MS); Institute of Human Genetics, University Hospital Bonn, Bonn, Germany (VS, PP); Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands (FJH, JW).

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http://dx.doi.org/10.1093/jnci/dju087DOI Listing
April 2014

Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation.

Cancer Epidemiol Biomarkers Prev 2013 Oct 29;22(10):1771-7. Epub 2013 Jul 29.

Authors' Affiliations: Department of Dermatology, Medical Statistics and Clinical Epidemiology, Clinical Genetics, Leiden University Medical Center, Leiden; Medical Affairs, Agendia, Amsterdam; Department of Pathology, VU University Medical Center, Amsterdam; The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden; and Department of Gastroenterology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0130DOI Listing
October 2013

Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis.

J Med Genet 2012 Dec 25;49(12):768-76. Epub 2012 Oct 25.

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101192DOI Listing
December 2012

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

Hum Mutat 2012 Jul 30;33(7):1051-5. Epub 2012 Apr 30.

Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/humu.22092
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http://dx.doi.org/10.1002/humu.22092DOI Listing
July 2012

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Clin Cancer Res 2012 May 27;18(10):2828-37. Epub 2012 Mar 27.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

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http://clincancerres.aacrjournals.org/content/18/10/2828.ful
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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-12-0160DOI Listing
May 2012

Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers.

Mutagenesis 2012 Mar;27(2):247-53

Department of Pathology, Leiden University Medical Centre, Albinusdreef 2, 2300 RC Leiden, The Netherlands.

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https://academic.oup.com/mutage/article-lookup/doi/10.1093/m
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http://dx.doi.org/10.1093/mutage/ger077DOI Listing
March 2012

MUTYH-associated polyposis (MAP).

Crit Rev Oncol Hematol 2011 Jul 21;79(1):1-16. Epub 2010 Jul 21.

Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef, Leiden, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10408428100014
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http://dx.doi.org/10.1016/j.critrevonc.2010.05.011DOI Listing
July 2011

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

Breast Cancer Res Treat 2010 Dec 27;124(3):635-41. Epub 2010 Feb 27.

Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Centre, Be414, Erasmus MC, CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10549-010-0801-7DOI Listing
December 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

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

J Clin Endocrinol Metab 2010 Jan 13;95(1):338-42. Epub 2009 Nov 13.

Department of Endocrinology and Metabolism and Center for Human, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2009-0993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805491PMC
January 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

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort.

Cancer Epidemiol Biomarkers Prev 2009 Nov 20;18(11):3062-7. Epub 2009 Oct 20.

Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1158/1055-9965.EPI-09-0601DOI Listing
November 2009

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.

Endocr Relat Cancer 2009 Sep 22;16(3):929-37. Epub 2009 Jun 22.

Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1677/ERC-09-0084DOI Listing
September 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

Introduction to molecular and clinical genetics of colorectal cancer syndromes.

Best Pract Res Clin Gastroenterol 2009 ;23(2):127-46

Centre for Human and Clinical Genetics, LUMC, Leiden, P.O. Box 9600, S06, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.bpg.2009.02.002DOI Listing
July 2009

Where genetics and pathology meet: mulibrey nanism.

J Pathol 2009 Jun;218(2):143-5

Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/path.2552
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http://dx.doi.org/10.1002/path.2552DOI Listing
June 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

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

Fam Cancer 2008 15;7(4):319-30. Epub 2008 Apr 15.

Department of Pathology, Leiden University Medical Center, Building L1Q, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10689-008-9194-8DOI Listing
January 2009

Lynch syndrome: still not a familiar picture.

Authors:
Frederik J Hes

World J Surg Oncol 2008 Feb 20;6:21. Epub 2008 Feb 20.

Center for Human and Clinical Genetics (CHKG), Department of Clinical Genetics, Leiden University Medical Center (LUMC), RC Leiden, The Netherlands.

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http://wjso.biomedcentral.com/articles/10.1186/1477-7819-6-2
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http://dx.doi.org/10.1186/1477-7819-6-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265717PMC
February 2008

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

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

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http://dx.doi.org/10.1038/sj.ejhg.5201871DOI Listing
October 2007

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Eur J Hum Genet 2007 Oct 20;15(10):1029-33. Epub 2007 Jun 20.

Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium

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http://dx.doi.org/10.1038/sj.ejhg.5201881DOI Listing
October 2007

A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.

World J Surg Oncol 2007 Oct 8;5:112. Epub 2007 Oct 8.

Dept. of Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1186/1477-7819-5-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2169240PMC
October 2007

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

Fam Cancer 2007 ;6(1):43-51

Department of Pathology, Leiden University Medical Center, Building L1Q, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10689-006-9103-yDOI Listing
September 2007

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations.

BMC Med Genet 2007 Jul 2;8:42. Epub 2007 Jul 2.

Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1186/1471-2350-8-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941726PMC
July 2007

MUTYH and the mismatch repair system: partners in crime?

Hum Genet 2006 Mar 12;119(1-2):206-11. Epub 2006 Jan 12.

Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0118-5DOI Listing
March 2006