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Cover Page

The handle

http://hdl.handle.net/1887/3147165

holds various files of this Leiden

University dissertation.

Author: Suerink, M.

Title: Germline variants in the mismatch repair genes: Detection and phenotype

Issue date: 2021-03-03

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Manon Suerink

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ISBN: 978-94-6332-738-1 © 2021 Manon Suerink

Cover design, illustration & lay-out: Esther Beekman (www.estherontwerpt.nl) Printed by: GVO drukkers B.V., Ede

The research presented in this thesis was financially supported by the Duch Cancer Society (grant number: KWF UL-2012-5155).

All rights reserved. No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without the prior permission of the author.

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Germline variants in the mismatch

repair genes:

detection and phenotype

Proefschrift

ter verkrijging van

de graad van doctor aan de Universiteit Leiden

op gezag van rector magnificus prof. dr. ir. H. Bijl

volgens besluit van het college voor promoties

te verdedigen op woensdag 3 maart 2021

klokke 16.15 uur

door

Manon Suerink

geboren te Rijswijk

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Promotor

Prof. dr. C.J. van Asperen Co-promotores

Dr. M. Nielsen Dr. J.T. van Wezel

Leden promotiecommissie Prof. dr. P. Devilee

Prof. dr. M.E. van Leerdam

Prof. dr. R.H. Sijmons (University Medical Centre Groningen) Prof. dr. M.J.L. Ligtenberg (Radboud University Medical Centre)

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Chapter 1 General introduction

Part I – Detection

Chapter 2 Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Clinical Genetics. January 2018

Chapter 3 Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

Journal of Medical Genetics. February 2019

Chapter 4 Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas

Journal of Clinical Pathology. Online ahead of print in 2020

Chapter 5 Well documented high-grade serous ovarian cancers should not be tested for mismatch repair deficiency

Manuscript in preparation

Part II – Phenotype

Chapter 6 An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Genetics in Medicine. December 2019

Chapter 7 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Genetics in Medicine. April 2016

Chapter 8 Incidence of (adenomatous) polyps and colorectal cancer in patients with PMS2-associated Lynch syndrome undergoing surveillance: a prospective cohort analysis

Manuscript in preparation

Chapter 9 General discussion Chapter 10 Dutch summary

List of publications Acknowledgments Curriculum vitae

Referenties

Download het nu ( PDF - 8 pagina - 5.52 MB )

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