Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Iris B A W Te Paske; Arjen R Mensenkamp; Kornelia Neveling; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Richarda M De Voer; ERN-GENTURIS Lynch-Like Working Group; Edward Leter

doi:10.1053/j.gastro.2022.08.041

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Iris B A W Te Paske
, Arjen R Mensenkamp
, Kornelia Neveling
, Nicoline Hoogerbrugge
, Marjolijn J L Ligtenberg
, Richarda M De Voer^*
, ERN-GENTURIS Lynch-Like Working Group
, Edward Leter

^*Corresponding author for this work

Research output: Contribution to journal › Editorial › Academic › peer-review

Original language	English
Pages (from-to)	1691-1694.e7
Number of pages	11
Journal	Gastroenterology
Volume	163
Issue number	6
DOIs	https://doi.org/10.1053/j.gastro.2022.08.041
Publication status	Published - Dec 2022

Keywords

Humans
DNA Mismatch Repair/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis

Access to Document

10.1053/j.gastro.2022.08.041Licence: CC BY

Cite this

Te Paske, I. B. A. W., Mensenkamp, A. R., Neveling, K., Hoogerbrugge, N., Ligtenberg, M. J. L., De Voer, R. M., ERN-GENTURIS Lynch-Like Working Group, & Leter, E. (2022). Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome. Gastroenterology, 163(6), 1691-1694.e7. https://doi.org/10.1053/j.gastro.2022.08.041

@article{9958d295c18e43eaa6e436becb8314a2,

title = "Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome",

keywords = "Humans, DNA Mismatch Repair/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis",

author = "\{Te Paske\}, \{Iris B A W\} and Mensenkamp, \{Arjen R\} and Kornelia Neveling and Nicoline Hoogerbrugge and Ligtenberg, \{Marjolijn J L\} and \{De Voer\}, \{Richarda M\} and \{ERN-GENTURIS Lynch-Like Working Group\} and Edward Leter",

note = "Funding Information: Funding This project received funding from the Sacha Swarttouw-Hijmans Foundation. The Solve-RD project received funding from the European Union{\textquoteright}s Horizon 2020 research and innovation program under grant agreement no. 779257. This research is supported (not financially) by the European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS)—Project ID No. 739547 and the Dutch X-omics Initiative, which is partly funded by NWO (184.034.019). ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Program ERN-2016 with Framework Partnership Agreement 2017–2021. Funding Information: The authors thank all study participants. The authors thank Neeltje Arts, Edris Askar, Anouk Bertram, Linske de Bruijn, Ronny Derks, Michael Kwint, Mieke Lutje-Berenbroek, Luke O'Gorman, Bruce Poppe, Robin de Putter, Hanneke Volleberg-Gorissen, Marcel Nelen, and Lisenka Vissers for their contributions to this project. Furthermore, the authors want to thank the Radboudumc Genome Technology Center for infrastructural and computational support. The ERN-GENTURIS Lynch-like Working Group (alphabetical order, grouped per hospital) includes St{\'e}phanie Baert-Desurmont,1 Kathleen B. M. Claes,2 Kim de Leeneer,2 Lisa Elze,3 Simone van den Heuvel,3 Rachel S. van der Post,4 Yvonne van Twuijver,3 Tjakko J. van Ham,5 Anja Wagner,5 Mirjam M. de Jong,6 Edward M. Leter,7 Maartje Nielsen,8 from the 1Department of Genetics, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France; 2Centre for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent University, Medical Genetics, Ghent, Belgium; 3Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; 4Department of Pathology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; 5Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands; 6Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands; 7Department of Clinical Genetics, Maastricht University Medical Center +, Maastricht, the Netherlands; and 8Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. Iris B. A. W. te Paske, MSc (Data curation: Equal; Formal analysis: Equal; Investigation: Equal; Validation: Equal; Writing – original draft: Equal; Writing – review \& editing: Equal). Arjen R. Mensenkamp, PhD (Data curation: Equal; Formal analysis: Equal; Investigation: Equal; Validation: Equal; Writing – review \& editing: Equal). Kornelia Neveling, PhD (Data curation: Equal; Formal analysis: Equal; Writing – review \& editing: Equal). Nicoline Hoogerbrugge, MD, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Validation: Equal; Writing – review \& editing: Equal). Marjolijn J. L. Ligtenberg, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Validation: Equal; Writing – review \& editing: Equal). Richarda M. de Voer, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Writing – original draft: Equal; Writing – review \& editing: Equal).",

year = "2022",

month = dec,

doi = "10.1053/j.gastro.2022.08.041",

language = "English",

volume = "163",

pages = "1691--1694.e7",

journal = "Gastroenterology",

issn = "0016-5085",

publisher = "W.B. Saunders",

number = "6",

}

TY - JOUR

T1 - Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

AU - Te Paske, Iris B A W

AU - Mensenkamp, Arjen R

AU - Neveling, Kornelia

AU - Hoogerbrugge, Nicoline

AU - Ligtenberg, Marjolijn J L

AU - De Voer, Richarda M

AU - ERN-GENTURIS Lynch-Like Working Group

AU - Leter, Edward

N1 - Funding Information: Funding This project received funding from the Sacha Swarttouw-Hijmans Foundation. The Solve-RD project received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement no. 779257. This research is supported (not financially) by the European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS)—Project ID No. 739547 and the Dutch X-omics Initiative, which is partly funded by NWO (184.034.019). ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Program ERN-2016 with Framework Partnership Agreement 2017–2021. Funding Information: The authors thank all study participants. The authors thank Neeltje Arts, Edris Askar, Anouk Bertram, Linske de Bruijn, Ronny Derks, Michael Kwint, Mieke Lutje-Berenbroek, Luke O'Gorman, Bruce Poppe, Robin de Putter, Hanneke Volleberg-Gorissen, Marcel Nelen, and Lisenka Vissers for their contributions to this project. Furthermore, the authors want to thank the Radboudumc Genome Technology Center for infrastructural and computational support. The ERN-GENTURIS Lynch-like Working Group (alphabetical order, grouped per hospital) includes Stéphanie Baert-Desurmont,1 Kathleen B. M. Claes,2 Kim de Leeneer,2 Lisa Elze,3 Simone van den Heuvel,3 Rachel S. van der Post,4 Yvonne van Twuijver,3 Tjakko J. van Ham,5 Anja Wagner,5 Mirjam M. de Jong,6 Edward M. Leter,7 Maartje Nielsen,8 from the 1Department of Genetics, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France; 2Centre for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent University, Medical Genetics, Ghent, Belgium; 3Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; 4Department of Pathology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; 5Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands; 6Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands; 7Department of Clinical Genetics, Maastricht University Medical Center +, Maastricht, the Netherlands; and 8Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. Iris B. A. W. te Paske, MSc (Data curation: Equal; Formal analysis: Equal; Investigation: Equal; Validation: Equal; Writing – original draft: Equal; Writing – review & editing: Equal). Arjen R. Mensenkamp, PhD (Data curation: Equal; Formal analysis: Equal; Investigation: Equal; Validation: Equal; Writing – review & editing: Equal). Kornelia Neveling, PhD (Data curation: Equal; Formal analysis: Equal; Writing – review & editing: Equal). Nicoline Hoogerbrugge, MD, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Validation: Equal; Writing – review & editing: Equal). Marjolijn J. L. Ligtenberg, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Validation: Equal; Writing – review & editing: Equal). Richarda M. de Voer, PhD (Conceptualization: Equal; Formal analysis: Equal; Investigation: Equal; Supervision: Equal; Writing – original draft: Equal; Writing – review & editing: Equal).

PY - 2022/12

Y1 - 2022/12

KW - Humans

KW - DNA Mismatch Repair/genetics

KW - Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis

U2 - 10.1053/j.gastro.2022.08.041

DO - 10.1053/j.gastro.2022.08.041

M3 - Editorial

C2 - 36037994

SN - 0016-5085

VL - 163

SP - 1691-1694.e7

JO - Gastroenterology

JF - Gastroenterology

IS - 6

ER -