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

TY - JOUR

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

AU - ERN-GENTURIS Lynch-Like Working Group

AU - Te Paske, Iris B.A.W.

AU - Mensenkamp, Arjen R.

AU - Neveling, Kornelia

AU - Baert-Desurmont, Stéphanie

AU - Claes, Kathleen B.M.

AU - de Leeneer, Kim

AU - Elze, Lisa

AU - van den Heuvel, Simone

AU - van der Post, Rachel S.

AU - van Twuijver, Yvonne

AU - van Ham, Tjakko J.

AU - Wagner, Anja

AU - de Jong, Mirjam M.

AU - Leter, Edward M.

AU - Nielsen, Maartje

AU - Hoogerbrugge, Nicoline

AU - Ligtenberg, Marjolijn J.L.

AU - De Voer, Richarda M.

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

U2 - 10.1053/j.gastro.2022.08.041

DO - 10.1053/j.gastro.2022.08.041

M3 - Short survey

C2 - 36037994

AN - SCOPUS:85142195866

SN - 0016-5085

VL - 163

SP - 1691-1694.e7

JO - Gastroenterology

JF - Gastroenterology

IS - 6

ER -