Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

TY - JOUR

T1 - Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

AU - Elsayed, Fadwa A

AU - Grolleman, Judith E

AU - Ragunathan, Abiram

AU - NTHL1 study group

AU - Kuiper, RP

AU - Buchanan, Daniel D

AU - van Wezel, Tom

AU - de Voer, Richarda M

N1 - Funding Information: Funding This study was funded by research grants from the Dutch Cancer Society (KUN2015-7740), the Dutch Digestive Foundation (MLDS FP13-13 to Tom van Wezel), Instituto de Salud Carlos III and European Regional Development Fund (ERDF) (PI14/00230 to Clara Ruiz Ponte) and by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with the following Colon Cancer Family Registry Cohort (CCFRC) sites: Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), and Seattle Colorectal Cancer Family Registry (U01/U24 CA074794). Daniel B. Buchanan is a University of Melbourne Research at the Melbourne Accelerator Program (R@MAP), principal research fellow, and National Health and Medical Research Council (NHMRC) R.D. Wright Career Development Fellow. Abiram Ragunathan is a Melbourne Genomics Health Alliance Fellow. Funding Information: Funding This study was funded by research grants from the Dutch Cancer Society (KUN2015-7740), the Dutch Digestive Foundation (MLDS FP13-13 to Tom van Wezel), Instituto de Salud Carlos III and European Regional Development Fund (ERDF) (PI14/00230 to Clara Ruiz Ponte) and by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with the following Colon Cancer Family Registry Cohort (CCFRC) sites: Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), and Seattle Colorectal Cancer Family Registry (U01/U24 CA074794). Daniel B. Buchanan is a University of Melbourne Research at the Melbourne Accelerator Program (R@MAP), principal research fellow, and National Health and Medical Research Council (NHMRC) R.D. Wright Career Development Fellow. Abiram Ragunathan is a Melbourne Genomics Health Alliance Fellow.The authors thank all study participants, the CCFRC and staff, and the Dutch Parelsnoer Institute Biobank Hereditary Colorectal Cancer for their contributions to this project. Furthermore, we would like to thank Robbert Weren, Eveline Kamping, M. Elisa Vink-B?rger, Riki Willems, Christian Gillissen, Peggy Manders, Dina Ruano, Ruud van der Breggen, Marina Ventayol, Sanne ten Broeke, Allyson Templeton, Maggie Angelakos, members of the Colorectal Oncogenomics Group, Sharelle Joseland, Susan Preston, Julia Como, Thomas Green, Magda Kloc, and Chris Cotsopoulos for their contributions to this project. The author(s) would further like to acknowledge networking support by the Cooperation in Science and Technology Action CA17118, supported by the European Cooperation in Science and Technology. NTHL1 study group: Arnoud Boot, Marija Staninova Stojovska, Khalid Mahmood, Mark Clendenning, Noel de Miranda, Dagmara Dymerska, Demi van Egmond, Steven Gallinger, Peter Georgeson, Nicoline Hoogerbrugge, John L. Hopper, Erik A.M. Jansen, Mark A. Jenkins, Jihoon E. Joo, Roland P. Kuiper, Marjolijn J.L. Ligtenberg, Jan Lubinski, Finlay A. Macrae, Hans Morreau, Polly Newcomb, Maartje Nielsen, Claire Palles, Daniel J. Park, Bernard J. Pope, Christophe Rosty, Clara Ruiz Ponte, Hans K. Schackert, Rolf H. Sijmons, Ian P. Tomlinson, Carli M. J. Tops, Lilian Vreede, Romy Walker, Aung K. Win, Colon Cancer Family Registry Cohort Investigators, Aleksandar J. Dimovski, and Ingrid M. Winship. Fadwa A. Elsayed, MSc (Data curation: Equal; Formal analysis: Equal; Writing ? original draft: Equal); Judith E. Grolleman, MSc (Data curation: Equal; Formal analysis: Equal; Visualization: Equal; Writing ? original draft: Equal); Abiram Ragunathan, MBBS (Data curation: Equal; Formal analysis: Equal; Visualization: Equal; Writing ? original draft: Equal); Daniel D. Buchanan, PhD (Conceptualization: Equal; Formal analysis: Equal; Funding acquisition: Equal; Supervision: Equal; Writing ? original draft: Equal; Writing ? review & editing: Equal); Tom van Wezel, PhD (Conceptualization: Equal; Formal analysis: Equal; Funding acquisition: Equal; Supervision: Equal; Writing ? review & editing: Equal); Richarda M. de Voer, PhD (Conceptualization: Equal; Formal analysis: Equal; Funding acquisition: Equal; Supervision: Equal; Writing ? original draft: Equal; Writing ? review & editing: Equal).

PY - 2020/12

Y1 - 2020/12

KW - Adult

KW - Aged

KW - Alleles

KW - Colonic Polyps/epidemiology

KW - Colorectal Neoplasms/epidemiology

KW - Deoxyribonuclease (Pyrimidine Dimer)/genetics

KW - Female

KW - Genetic Predisposition to Disease

KW - Heterozygote

KW - Humans

KW - Loss of Function Mutation

KW - Male

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

UR - https://www.scopus.com/pages/publications/85097383298

U2 - 10.1053/j.gastro.2020.08.042

DO - 10.1053/j.gastro.2020.08.042

M3 - Article

C2 - 32860789

SN - 0016-5085

VL - 159

SP - 2241-2243.e6

JO - Gastroenterology

JF - Gastroenterology

IS - 6

ER -