Carli M Tops

Carli M Tops

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Carli M Tops

Carli M Tops

Publications by authors named "Carli M Tops"

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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

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

Nat Rev Endocrinol 2017 04 18;13(4):233-247. Epub 2016 Nov 18.

Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.

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http://dx.doi.org/10.1038/nrendo.2016.185DOI Listing
April 2017

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

Mol Genet Genomic Med 2015 Jul 23;3(4):327-45. Epub 2015 Apr 23.

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

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http://doi.wiley.com/10.1002/mgg3.145
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http://dx.doi.org/10.1002/mgg3.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968PMC
July 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

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

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

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

Hum Mutat 2010 Mar;31(3):247-53

Departments of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/humu.21180
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http://dx.doi.org/10.1002/humu.21180DOI Listing
March 2010

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

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

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

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

Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.

CA Cancer J Clin 2006 Jul-Aug;56(4):213-25

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

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http://dx.doi.org/10.3322/canjclin.56.4.213DOI Listing
September 2006

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