Mw. Dr. M. Nielsen

Vakgebied(en)

  • Erfelijke vormen van kanker

Introductie

Maartje Nielsen is a clinical geneticist with a main interests in hereditary cancers and a focus on colorectal cancer syndromes.


Career

Research

  • 2012-2016 KWF fellowship Delineating the phenotype of PMS2 heterozygote mutation carriers and finding modifiers explaining clinical variance in PMS2 and MUTYH associated polyposis patients (UL 2012-5515)
  • 2004-march 2011 PhD research: Clinical and molecular aspects of MUTYH- and APC-associated polyposis.
  • 2002 Research at the department of microbiology, university hospital Örebro, Sweden. Classification of Coagulase negative. Stafylococ using among others, Pulse Field Gel Electrophoresis.
  • 1995-1997 Research at the Department of Hematology AMC: ‘incidence of the postthrombotic syndrome (PTS) in patients who develop asymptomatic DVT after major hip or knee arthroplasty
Professional
  • 2012 Clinical Geneticist at the LUMC
  • 2006-2012 Resident in training for Clinical Geneticist, at the department of Clinical Genetics, Leiden University Medical Center (LUMC)
  • 2003 –2004 Resident St. Lucas Hospital Andreas, departments of Cardiology, Pulmonary disease and Internal Medicine
Prizes
  • Marie Parijsprijs 2013
  • LUMC Thesis award 2012
  • Dick Held senior prize 2012 (for PhD-thesis) 
  • Janssen Gastrointestinale Research prize 2012 for PhD-thesis (shared first)


Selected Publications

  1. Ten Broeke S, Brohet RM, Tops CM2, van der Klift HM, Velthuizen ME2, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. J Clin Oncol. 2014 Dec 15. pii: JCO.2014.57.8088.
  2. Brand R, Nielsen M, Lynch H, Infante E. MUTYH-Associated Polyposis. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2012 Oct 04.
  3. Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ.; Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2.
  4. Nielsen M, Vermont CL, Aten E, Ruivenkamp CA, van Herrewegen F, Santen GW, Breuning MH. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.
  5. Gijs W.E. Santen, Emmelien Aten, Yu Sun1, Rowida Al Momani, Christian Gilissen, Maartje Nielsen, Sarina G. Kant, Irina N. Snoeck, Els A.J. Peeters, Yvonne Hilhorst-Hofstee, Marja W. Wessels4, Nicolette S. den Hollander1, Claudia A.L. Ruivenkamp1, Gert-Jan B. van Ommen1, Martijn H. Breuning1, Johan T. den Dunnen, Arie van Haeringen, Marjolein Kriek. Mutations in Swi/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome, Nature Genetics 2012 Mar 18;44(4):379-80.
  6. Nielsen M, Morreau H, Vasen HF, Hes FJ. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol. 2011 Jul;79(1):1-16.
  7. Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ. Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients. J Natl Cancer Inst. 2010 Nov 2
  8. Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Leiden open variation database of the MUTYH gene. Hum Mutat. 2010 Aug 19.
  9. Nielsen M, de Miranda NF, van Puijenbroek M, Jordanova ES, Middeldorp A, van Wezel T, van Eijk R, Tops CM, Vasen HF, Hes FJ, Morreau H. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer. 2009 Jun 15;9:184.,
  10. Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009 Dec;137(6):1976-85. 
  11. Jones N, Vogt S, Nielsen M, Christian D, Wark PA, Eccles D, Edwards E, Evans DG, Maher ER, Vasen HF, Hes FJ, Aretz S, Sampson JR. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology. 2009 Aug;137(2):489-94, 494.e1; quiz 725-6. 
  12. Nielsen M, Joerink-van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HF, Sampson JR, Aretz S, Hes FJ. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology. 2009 Feb;136(2):471-6. Epub 2008 Oct 30.
  13. van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, van Wezel T, Hes FJ, Morreau H. Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res. 2008 Jan 1;14(1):139-42.
  14. Nielsen M, Hes FJ, Vasen HF, van den Hout WB. Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations. BMC Med Genet. 2007 Jul 2;8:42.
  15. Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM. Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet. 2007 Oct;15(10):1034-42.
  16. Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Somatic APC Mosaicism: An Underestimated Cause Of Polyposis Coli. Gut. 2008 Jan;57(1):71-6;
  17. Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CM, Vasen HF. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007 May;71(5):427-33.
  18. van Puijenbroek M, Nielsen M, Reinards TH, Weiss MM, Wagner A, Hendriks YM, Vasen HF, Tops CM, Wijnen J, van Wezel T, Hes FJ, Morreau H. The natural history of a combined defect in MSH6 and MutYH in a Dutch HNPCC family. Fam Cancer. 2007;6(1):43-51.
  19. Nielsen M, Poley JW, Verhoef S, van Puijenbroek M, Weiss MM, Burger GT, Dommering CJ, Vasen HF, Kuipers EJ, Wagner A, Morreau H, Hes FJ. Duodenal carcinoma in MUTYH-associated polyposis coli. J Clin Path. 2006 Nov;59(11):1212-5.


Contactgegevens

Leids Universitair Medisch Centrum
Gebouw 1
Kamer K5-176

Albinusdreef 2
2333 ZA Leiden

Postzone K5-R
Postbus 9600
2300 RC Leiden

E-mail: m.nielsen@lumc.nl