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Molecular Pathology: Marjanka Schmidt


Marjanka Schmidt, Ph.D.Groupleader

About Marjanka Schmidt

Research interest: Breast cancer epidemiology

Our work focuses on the effects of genetic variants on risk of breast cancer subtypes, prognosis and long-term outcome of breast cancer. We investigate the interactions between germline variants and life style (e.g. diabetes and insulin exposure) on the incidence of specific breast cancer subtypes, and the interactions between germline variants, tumor characteristics, breast cancer treatment and lifestyle factors on breast cancer prognosis, incidence of second tumors, and mortality. A second research line focuses on patient information and consent procedures, and return of results from research using human materials. This directly relates to the first research line as increasingly studies generate genetic information about hereditary variants. This research group is based in two divisions: Molecular Pathology, and Psychosocial Research and Epidemiology.

Genetic determinants of breast cancer risk and outcome

In recent years we have as part of the Breast Cancer Association consortium (BCAC; PI: D. Easton, Cambridge, UK) identified many new breast cancer susceptibility loci. However, the genetic determinants of breast cancer prognosis are still largely unexplained. We are trying to identify those through a number of studies, among others within this large BCAC consortium. The BCAC clinico-pathological database including tumor characteristics and clinical diagnostic and treatment information as well as follow-up from 65 studies comprising ~110,000 patients is maintained by our group. We aim to identify germline variants that are important in the aetiology of breast cancer subtypes as well as variants that affect prognosis through treatment response or other mechanisms. The proof of principle is our finding that the breast cancer susceptibility variant CHEK2*1100delC also predisposes to an increased risk for contralateral breast cancer and worse breast cancer survival.

In our 'BOSOM' cohort, a nationwide consecutive breast cancer cohort of women diagnosed with breast cancer <50 years of age, we are investigating prognosis and long-term outcome of BRCA1/2 mutation carriers. For the HEBON-Resource study, a nationwide cohort of breast cancer patients from families that have been screened for BRCA1/2 mutations (coordinator: M Rookus), we are studying prognosis and treatment of familial breast cancer patients, as well as impact of prophylactic measures.

Genetic germline or tumor genetic variants or molecular tumor markers will need to be included in (online) prediction models. We are working in collaborative efforts to improve outcome predictions of online models such as Adjuvant Online! and PREDICT in order to assist fine-tuning of these prediction models for more specified groups of breast cancer patients.

Biobanking: consent procedures and return of results

In the Netherlands and many other countries, the use of residual tissues for research is regulated by an 'opt-out' procedure, in which patients can decide to disagree with the use of their tissue on the basis of written information. At present, the amount and quality of information differs widely across Dutch hospitals. Therefore, we have developed a standardized information brochure (read more).

Our previous research showed that cancer patients are unsatisfied with the current information procedure: they are mostly unaware of residual tissue storage for their own clinical benefit and possible use in research, although only a minority wishes to refuse this. We are currently surveying patients to investigate different consent procedures for the secondary use of human materials in clinical research. We examine patient satisfaction and their preference for the different procedures, and the impact of the different consent procedures on the quality of clinical research and on the medical staff.

The discussion about consent procedures, return of results and inclusion of patient advocates in the governance of biobanks has intensified over the increasing amount of genetic results generated from biobank materials. Biobank donors state to be interested in receiving research results from biobank research. In a national collaborative effort within BBMRI-NL, we aim to identify common denominators in content and context of return of results, optimal way to inform donors about research results strategies and models for the involvement of donors in the governance of biobanks.


Beusink, Miriam

Miriam Beusink

Research Assistant


I obtained my Bachelor in Social Science and a Premaster and Master in Sociology at Utrecht University. Previously I worked as a Research Assistant on various projects at the Trimbos-institute. In October 2017 I started my current position as Research Assistant to work on three projects focusing on the responsible use of archival tissue and data for research and personalized medicine. Specifically,1: developing a 'toolbox' that hospitals may use to implement relevant guidelines, 2: investigating the best way to use informed consent for using Big Data, and 3: developing a national 'ELSI Servicedesk' for personalized medicine and next-generation sequencing.

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Bhattacharjee, Proteeti

Proteeti Bhattacharjee

Scientific Project Manager


I completed B.Sc. in Biochemistry from University of Delhi and M.Sc. in Molecular and Human Genetics from Banaras Hindu University, Varanasi, India. In 2012, I received my PhD jointly from European Molecular Biology Laboratory (EMBL), Heidelberg and University of Heidelberg, Germany.
After a brief stint of post-doctoral work at EMBL, I moved into the field of science communication and management and worked at the Office of Information and Public Affairs (OIPA) in EMBL, Heidelberg.
Later, I joined Max Planck Gesellschaft (MPG), at the division of international relations in Munich where I managed the India country portfolio based in New Delhi at the German House for Research and Innovation. I obtained a micro-masters (edX) in International Business Management from Thunderbird
School of Global Management before joining NKI in September 2018 as Scientific Project Manager for PRECISION and B-CAST projects.

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Binuya, Mary Ann

Mary Ann Binuya

Ph.D. Student


I obtained my MSc in Epidemiology from the University of Antwerp in Belgium and my BSc in Statistics from the University of the Philippines. Prior to obtaining a master's degree, I was working in clinical research as a data manager.

In July 2020, I joined Prof. Schmidt's group as a PhD student investigating prediction models. Our research aims to develop comprehensive guidelines for model validation, assessment of utility, and extension. Part of our research looks into breast cancer prognostic models, specifically whether or not the addition of new variables (e.g. multi-gene profiles) has added statistical, clinical, or economic benefits.

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Sander Canisius

Associate Staff Scientist


I received my PhD degree from Tilburg University in 2009 for my thesis on machine learning approaches to processing and understanding of natural language. Since 2009, I have been employed by the Netherlands Cancer Institute. From 2009 to 2015,

I had a postdoc position in the Computational Cancer Biology group of Lodewyk Wessels, where I worked on a wide range of statistical analyses of cancer genomics data.

Late 2015, I joined the group of Marjanka Schmidt at the NKI. My work in this group focuses on dissecting the role of inherited genetic variation in tumour biology and patient survival.


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Sten Cornelissen, BSc



I work at the NKI since January 2008 after I graduated at the University of Applied Sciences in Utrecht. I work on several projects investigating genetic risk factors for breast cancer (survival) and on a project in which we investigate genetic tumour profiles of diabetic women with breast cancer. Techniques I use are among others PCR, Taqman Real-time PCR, GeneScan fragment analyses, Sanger Sequencing & Next Generation Sequencing.



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Engelhardt, Ellen

Ellen Engelhardt

Postdoctoral researcher


In 2017 I obtained my PhD from Leiden University. The focus of my thesis was the evaluation of the accuracy of prediction models used to guide decision making about adjuvant systemic treatment for breast cancer and assessment of a) how often such prediction models are used to inform patients about their prognosis during consultations, and b) whether and how the use of such models impacts the (shared) decision making process.

As of April 2018 I have a dual appointment at the NKI. Four days a week I work at the PSOE in the Bleiker group where my focus is on long-term quality of life and other psychosocial outcomes of the women diagnosed with ductal carcinoma in situ (DCIS) eligible to take part in the LORD trial. One day a week I work at C2 in the Schmidt group on the PRECISION (PREventductal Carcinoma In Situ Intensive Overtreatment Now) study. The focus of my work in the Schmidt group is development and evaluation of prediction models to support decision making.

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Escala Garcia, Maria

Maria Escala Garcia

Ph.D. Student


In 2014 I obtained my bachelor degree in Biotechnology at the University of Barcelona. Then, I did MSc in Bioinformatics at KU Leuven, Belgium. 

In July 2016, I started my PhD in the group of Marjanka Schmidt where I am currently working on the study of patient data from the Breast Cancer Association Consortium (BCAC). Concretely, the project aims to apply statistic and bioinformatics approaches in order to investigate the association between germline variants and survival.  

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Giardiello, Daniele

Daniele Giardiello

Ph.D. Student


I obtained my MSc in Biostatistics and Experimental Statistics at the University of Milan-Bicocca in 2012. My previous position was at the National Cancer Institute in Milan as statistician with the group of dr. Luigi Mariani, where I worked on different projects.
In November 2016, I started my PhD joining the group of dr. Marjanka Schmidt's as a statistician and working on the project of developing and validating an online decision aid for physicians and patients in order to estimate the risk of controlateral breast cancer.



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Renske Keeman, MSc

Data Manager


I have a Bachelors degree in Bio Medical Sciences at the VU University and a Masters degree in Health and Nutrition (specialization Epidemiology) at the Wageningen University. After graduation I worked as a Junior Researcher at the Pharmo Institute for Drug Outcome Research for 1.5 years. I started at the NKI in March 2012. Here I'm a data manager, primarily for the BCAC (Breast Cancer Association Consortium) and the BOSOM (Breast cancer Outcome Study Of Mutation carriers) studies. I receive, manage, clean, update and supply data from various sources. The diversity in this job is what makes it challenging.


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Iris Kramer

PhD student


I obtained my Bachelor degree in Health and Life Sciences at the VU University in Amsterdam (including an internship at the NKI), and my Master degree in Health Promotion at the Maastricht University.

In August 2016, I started my PhD in the group of Marjanka Schmidt. I'm working on a project concerning contralateral breast cancer (CBC). I'll be involved with the development of a decision aid for the prediction of CBC. My focus will be on the risk factors involved in the development of CBC (e.g. tumor characteristics of the primary breast cancer).

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Anna Morra

PhD student


I obtained my Master degree in Mathematics with specialization in Statistical sciences at the University of Leiden. As a part of my study, I did an internship within the Statistical Genetics group in the department of Medical Statistics and Bioinformatics of the Leiden University Medical Center.

In March 2016 I joined the group of Marjanka Schmidt as a research assistant and I'm currently working on statistical analyses to investigate the association of  genetics variants and pre-diagnostic risk factors with the survival of breast cancer patients, with particular interest in the associations within specific tumor and treatment subtypes. From September 2016 I started my PhD trajectory.

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Susanne Rebers, Ph.D.

Associate Staff Scientist


After obtaining my M.Sc. in Biology, I worked on an interdisciplinary research project at the Faculty of Social Sciences of the VU University, for which I received my Ph.D. degree.
My current work focuses on consent procedures for the use of residual tissues for scientific research. I mainly focus on the opinion of patients. Do they prefer an informed consent procedure, or do they think an opt-out procedure is sufficient? Ultimately, the research results will be translated into a consent procedure that best reflects the interests of patients, researchers and clinical staff.


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Rojas Rodriguez, Felipe

Felipe Rojas Rodriguez

Ph.D. Student


I am Felipe Rojas Rodriguez, Ph.D student working in Prof. Marjanka Schmidt group from February 2020 to February 2024. I will be working in the association of germline and somatic tumor mutations with clinical data for biomarkers identification and early classification of breast cancer patients. I received my Biology degree from Pontificia Universidad Javeriana in Bogota, Colombia and made my internship at the University of Geneva. My previous positions were as an associate bioinformatics researcher at the Computational Neuroscience group of Prof. Janneth Gonzalez and at the Inborn Errors of Metabolism Institute. My hobbies are reading, swimming and traveling.

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Verdiesen, Renée

Renée Verdiesen

Postdoctoral Fellow


My name is Renée Verdiesen and I am working as postdoc in the group of Marjanka Schmidt. In 2016, I completed the master Epidemiology at Utrecht University and started my PhD project at the Julius Center for Primary Care and Health Sciences in the UMC Utrecht. At the moment (June 2020), I am finishing my PhD thesis about reproductive aging and risk of cancer and cardiovascular disease outcomes.

The focus of my work at the NKI will be on genetic epidemiology of breast cancer.

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Wang, Yuwei

Yuwei Wang

Ph.D. student


I am Yuwei Wang, a Ph.D. student working in Prof.
Marjanka Schmidt's research team from October 2019 to September 2023. My
project is about identifying a subgroup of young women with triple negative
breast cancer who could have excellent survival without chemotherapy. I grew up
in Xi'an, China. After my bachelor study in Preventive Medicine and Public
Health, I went to the Netherlands to study epidemiology and then obtained my MSc
degree in Biomedical Sciences from Radboudumc with cum laude. In my spare time,
I enjoy traveling, cooking Chinese dishes and playing badminton.

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Key publications View All Publications

  • Impact of Age at Primary Breast Cancer on Contralateral Breast Cancer Risk in BRCA1/2 Mutation Carriers

    (2016) J Clin Oncol. Feb 10;34(5):409-18. doi: 10.1200/JCO.2015.62.3942. Epub 2015 Dec 23.

    van den Broek AJ, van 't Veer LJ, Hooning MJ, Cornelissen S, Broeks A, Rutgers EJ, Smit VT, Cornelisse CJ, van Beek M, Janssen-Heijnen ML, Seynaeve C, Westenend PJ, Jobsen JJ, Siesling S, Tollenaar RA, van Leeuwen FE, Schmidt MK.

    Link to PubMed
  • A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

    (2020) Nat Commun. Jan 16;11(1):312. doi: 10.1038/s41467-019-14100-6.

    Escala-Garcia M, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Ashworth A, Auer PL, Auvinen P, Beckmann MW, Beesley J, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Børresen-Dale AL, Brauch H, Brenner H, Brucker SY, Burwinkel B, Caldas C, Canzian F, Chang-Claude J, Chanock SJ, Chin SF, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dunn JA, Dunning AM, Dwek M, Earl HM, Eccles DM, Eliassen AH, Ellberg C, Evans DG, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Giles GG, Goldgar DE, González-Neira A, Grip M, Guénel P, Guo Q, Haiman CA, Håkansson N, Hamann U, Harrington PA, Hiller L, Hooning MJ, Hopper JL, Howell A, Huang CS, Huang G, Hunter DJ, Jakubowska A, John EM, Kaaks R, Kapoor PM, Keeman R, Kitahara CM, Koppert LB, Kraft P, Kristensen VN, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Orr N, Peterlongo P, Petridis C, Prentice RL, Presneau N, Punie K, Ramachandran D, Rennert G, Romero A, Sachchithananthan M, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, Simard J, Sohn C, Southey MC, Swerdlow AJ, Tamimi RM, Tapper WJ, Teixeira MR, Terry MB, Thorne H, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Turnbull C, Vachon CM, van der Kolk LE, Wang Q, Winqvist R, Wolk A, Yang XR, Ziogas A, Pharoah PDP, Hall P, Wessels LFA, Chenevix-Trench G, Bader GD, Dörk T, Easton DF, Canisius S, Schmidt MK.

    Link to PubMed

Recent publications View All Publications

  • The impact of menstruation persistence or recovery after chemotherapy on survival in young patients with hormone receptor negative breast cancer

    (2020) Breast. Aug;52:102-109. doi: 10.1016/j.breast.2020.05.004. Epub 2020 May 22.

    van Barele M, Heemskerk-Gerritsen BAM, van Doorn HC, Schmidt MK, Hooning MJ, Jager A.

    Link to PubMed
  • Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort

    (2020) Genet Med. Jul 6. doi: 10.1038/s41436-020-0884-4.

    Lakeman IMM, Rodríguez-Girondo M, Lee A, Ruiter R, Stricker BH, Wijnant SRA, Kavousi M, Antoniou AC, Schmidt MK, Uitterlinden AG, van Rooij J, Devilee P.

    Link to PubMed


  • Office manager

    Suzanne Romijn

  • E-mail

  • Telephone Number

    +31 20 512 9168



'Many breast cancers have a genetic component. We try to find out how these genetic factors influence the course of the disease.
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