Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and...

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Main Authors: Adams, D.J (Author), Arbe-Barnes, E.H (Author), Arnedo-Pac, C. (Author), Bajel, A. (Author), Buchanan, D.D (Author), Caravagna, G. (Author), Cheadle, J.P (Author), Chegwidden, L. (Author), Chew, E. (Author), Christie, M. (Author), Chubb, D. (Author), Church, D. (Author), Clendenning, M. (Author), Cross, W. (Author), Curley, H. (Author), de Voer, R.M (Author), Deltas, C. (Author), Dimovski, A.J (Author), Dymerska, D. (Author), Flensburg, C. (Author), Fostira, F. (Author), Frangou, A. (Author), Galavotti, S. (Author), Genomics England Research Consortium (Author), Georgiou, D. (Author), Goldberg, Y. (Author), Graham, T. (Author), Green, A. (Author), Grolleman, J.E (Author), Gruber, A.J (Author), Hoogerbrugge, N. (Author), Houlston, R. (Author), Jansen, E.A.M (Author), Jenkins, M.A (Author), Kinnersley, B. (Author), Koelzer, V.H (Author), Kuiper, R.P (Author), Lander, N. (Author), Ligtenberg, M.J.L (Author), Lopez-Bigas, N. (Author), Lubinski, J. (Author), Mahmood, K. (Author), Majewski, I.J (Author), Martin, L. (Author), Noyvert, B. (Author), Pagan, J. (Author), Palles, C. (Author), Ponte, C.R (Author), Power, D.G (Author), Rivas, A.D (Author), Roberts, A.W (Author), Sampson, J.R (Author), Sanders, M. (Author), Sherwood, K. (Author), Sottoriva, A. (Author), Taylor, J.C (Author), The CORGI Consortium (Author), Thomas, H. (Author), Thomas, L.E (Author), Tomlinson, I.P.M (Author), Truscott, R. (Author), Turnbull, C. (Author), van der Biezen, S.A.M (Author), van der Post, R.S (Author), van Wezel, T. (Author), Vreede, L. (Author), Wedge, D. (Author), Weitz, J. (Author), West, H.D (Author), WGS500 Consortium (Author), Whalley, C. (Author), Winship, I.M (Author)
Format: Article
Language:English
Published: Cell Press 2022
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