基本信息
views: 52
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
Bio
Maartje Nielsen was born on May 10th 1975 in Amsterdam. She graduated from high school in 1993 at the Barleaus gymnasium in Amsterdam. She obtained her medical degree in 2002 at the University of Amsterdam (UvA). Between 1995 and 1999 she studied economics at the UvA, completing two years of the doctoral program. She did a scientific rotation at the department of Hematology at the Academic Medical Center and at the department of microbiology at the university hospital in Örebro, Sweden. In 2003 she worked for one year as a junior resident at department of internal medicine of the St. Lucas Andreas Hospital in Amsterdam. In March 2004 she was offered to start working full time on the research project involving MUTYH associated polyposis at the Leiden University Medical Center (LUMC), for which she received a Ph.D. in Medicine (with honors) from the University of Leiden in 2011. During this research project she followed the Postgraduate Epidemiology Program, for which she did her theory exams in 2007. On December 31 2006 Maartje has started her training in clinical genetics at the LUMC and received this degree on December 2012. Currently she works as a clinical geneticist at the department of clinical genetics in the LUMC.
In 2012 she was rewarded with a personal grant from the Dutch Cancer society (KWF), so she is now a fellow for the KWF and able to divide her time between research and clinical work. Furthermore, she received several awards for her research such as the Marie Parijs prize for upcoming researcher in the LUMC, Dick-Held thesis prize 2012, LUMC thesis award 2011 and the Janssen Gastrointestinal Research prize 2012.
Her main research interest include analyzing cancer risk in genetically predisposed families and estimating associations between risk factors, genetic and external, and cancer incidence. She is successful in setting up (inter) national large clinical databases of families with a specific genetic background. For example starting in 2004 she generated a clinical database of MUTYH associated and in the Netherlands and in collaboration with universities of Cardiff and Bonn, we were able to gather the largest patient group of this disease in the world (over 300 MAP patients). With this large amount of clinical data she was able to describe the clinical phenotype, cancer risks, extracolonic manifestations, geno-phenotype correlations, molecular and histological characteristics of cancer tissue and construct surveillance guidelines for MAP patients. Outcomes have been implemented in the genetic and gastro-enterologic practice. From 2011 the same procedure was used to assemble to world largest cohorts of PMS2 patients, including Dutch patients and their families but also several families from other European countries. In 2014 and recently PMS2 cancer risk studies were or will be published at the Journal of Clinical Oncology.
For Lynch syndrome, next to PMS2, we started in 2017 to assemble the largest cohort of MSH6 families worldwide. With national cooperation data on over 250 families will become available for penetrance analysis, for which we will use a modified segregation analysis to correct for ascertainment bias. Secondly, we will try to unravel risk modifiers by analyzing genotype-phenotype and parent-of-origin correlation. We expect that this project will establish unbiased cancer risks and increase our understanding of risk modifiers in MHS6. This will have implications for screening and treatment advice.
Also tumours of Lynch patients, mainly PMS2, MSH6 and MUTYH associated patients will be analysed to define the molecular, immunological and histological profile which will possibly provide new therapeutic handles and improve detection strategies.
Furthermore, together with the department of Pathology we will assemble patients with unexplained polyposis and see wheter APC mosaic mutations are present. Moreover, mosaicism in other patient groups, such as patients with mismatch repair deficient tumors, will be studied to assess how prevalence of this genetic background is and what the implications for cancer risk, treatment, and surveillance are.
Research Interests
Papers共 165 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
European journal of human genetics : EJHGno. 7 (2024): 871-875
Critical Reviews in Oncology/Hematology (2024): 104331-104331
crossref(2024)
crossref(2024)
crossref(2024)
crossref(2024)
MODERN PATHOLOGYno. 3 (2024): 100423-100423
crossref(2024)
crossref(2024)
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn