Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward Arbe Barnes, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Constantinos Deltas, Aleksandar J. Dimovski, Dagmara Dymerska, Jan Lubinski, Khalid Mahmood, Rachel S. van der Post, Mathijs Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo Pac, Gulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas Gruber, Ben Kinnersley, Boris Noyvert, David Church, Trevor Graham, Richard Houlston, Nuria Lopez-Bigas, Andrea Sottoriva, David Wedge, Genomics England Research Consortium, The CORGI Consortium, WGS500 Consortium, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andres Dacal Rivas, Ingrid M. Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Ian P.M. Tomlinson, Ian J. Majewski, Richarda M. de Voer
bioRxiv 2021.04.27.441137; doi: https://doi.org/10.1101/2021.04.27.441137