Publications by authors named "Maartje Nielsen"

58Publications

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

JCI Insight 2020 Sep 17;5(18). Epub 2020 Sep 17.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1172/jci.insight.140698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526538PMC
September 2020

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

Genet Med 2020 Sep;22(9):1569

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/s41436-020-0892-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462742PMC
September 2020

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.

Genes Chromosomes Cancer 2020 Jul 2. Epub 2020 Jul 2.

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

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http://dx.doi.org/10.1002/gcc.22883DOI Listing
July 2020

Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature.

Gastroenterology 2020 Oct 27;159(4):1612-1614.e5. Epub 2020 Jun 27.

Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2020.06.055DOI Listing
October 2020

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

Genet Med 2020 01 24;22(1):15-25. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371626PMC
January 2020

[Genetic testing in patients with cancer; new developments].

Ned Tijdschr Geneeskd 2019 05 20;163. Epub 2019 May 20.

Radboudumc, afd. Genetica, Nijmegen.

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May 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

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

J Natl Cancer Inst 2018 12;110(12):1328-1341

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1093/jnci/djy171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292796PMC
December 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

Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome.

JAMA Oncol 2018 06;4(6):889-890

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.

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http://dx.doi.org/10.1001/jamaoncol.2018.0256DOI Listing
June 2018

ClinGen and Genetic Testing.

N Engl J Med 2015 10;373(14):1377

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http://dx.doi.org/10.1056/NEJMc1508700DOI Listing
October 2015

A PMS2-specific colorectal surveillance guideline.

Genet Med 2015 Aug;17(8):684

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

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http://dx.doi.org/10.1038/gim.2015.91DOI Listing
August 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

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

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

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

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

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

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