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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: sanders m. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.
Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, Bajel A, Luiken B, Rijken M, Mclennan T, Hoogenboezem RM, Kavelaars FG, Fröhling S, Blewitt ME, Bindels EM, Alexander WS, Löwenberg B, Roberts AW, Valk PJM, Majewski IJ. Sanders MA, et al. Blood. 2018 Oct 4;132(14):1526-1534. doi: 10.1182/blood-2018-05-852566. Epub 2018 Jul 26. Blood. 2018. PMID: 30049810 Free PMC article.
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS, Coorens THH, Palles C, Mitchell E, Abascal F, Olafsson S, Lee BCH, Lawson ARJ, Lee-Six H, Moore L, Sanders MA, Hewinson J, Martin L, Pinna CMA, Galavotti S, Rahbari R, Campbell PJ, Martincorena I, Tomlinson I, Stratton MR. Robinson PS, et al. Among authors: sanders ma. Nat Genet. 2021 Oct;53(10):1434-1442. doi: 10.1038/s41588-021-00930-y. Epub 2021 Sep 30. Nat Genet. 2021. PMID: 34594041 Free PMC article.
Mutational landscape of normal epithelial cells in Lynch Syndrome patients.
Lee BCH, Robinson PS, Coorens THH, Yan HHN, Olafsson S, Lee-Six H, Sanders MA, Siu HC, Hewinson J, Yue SSK, Tsui WY, Chan ASY, Chan AKW, Ho SL, Campbell PJ, Martincorena I, Buczacki SJA, Yuen ST, Leung SY, Stratton MR. Lee BCH, et al. Nat Commun. 2022 May 17;13(1):2710. doi: 10.1038/s41467-022-29920-2. Nat Commun. 2022. PMID: 35581206 Free PMC article.
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS, Thomas LE, Abascal F, Jung H, Harvey LMR, West HD, Olafsson S, Lee BCH, Coorens THH, Lee-Six H, Butlin L, Lander N, Truscott R, Sanders MA, Lensing SV, Buczacki SJA, Ten Hoopen R, Coleman N, Brunton-Sim R, Rushbrook S, Saeb-Parsy K, Lalloo F, Campbell PJ, Martincorena I, Sampson JR, Stratton MR. Robinson PS, et al. Among authors: sanders ma. Nat Commun. 2022 Jul 8;13(1):3949. doi: 10.1038/s41467-022-31341-0. Nat Commun. 2022. PMID: 35803914 Free PMC article.
The mutational landscape of human somatic and germline cells.
Moore L, Cagan A, Coorens THH, Neville MDC, Sanghvi R, Sanders MA, Oliver TRW, Leongamornlert D, Ellis P, Noorani A, Mitchell TJ, Butler TM, Hooks Y, Warren AY, Jorgensen M, Dawson KJ, Menzies A, O'Neill L, Latimer C, Teng M, van Boxtel R, Iacobuzio-Donahue CA, Martincorena I, Heer R, Campbell PJ, Fitzgerald RC, Stratton MR, Rahbari R. Moore L, et al. Among authors: sanders ma. Nature. 2021 Sep;597(7876):381-386. doi: 10.1038/s41586-021-03822-7. Epub 2021 Aug 25. Nature. 2021. PMID: 34433962
Recurrently affected genes in juvenile myelomonocytic leukaemia.
Obenauer JC, Kavelaars FG, Sanders MA, de Vries ACH, de Haas V, Beverloo HB, De Moerloose B, Lammens T, Dworzak M, Hoogenboezem RM, Valk PJM, Touw IP, van den Heuvel-Eibrink MM. Obenauer JC, et al. Among authors: sanders ma. Br J Haematol. 2018 Jul;182(1):135-138. doi: 10.1111/bjh.14737. Epub 2017 May 9. Br J Haematol. 2018. PMID: 28485469 Free article. No abstract available.
The landscape of somatic mutation in normal colorectal epithelial cells.
Lee-Six H, Olafsson S, Ellis P, Osborne RJ, Sanders MA, Moore L, Georgakopoulos N, Torrente F, Noorani A, Goddard M, Robinson P, Coorens THH, O'Neill L, Alder C, Wang J, Fitzgerald RC, Zilbauer M, Coleman N, Saeb-Parsy K, Martincorena I, Campbell PJ, Stratton MR. Lee-Six H, et al. Among authors: sanders ma. Nature. 2019 Oct;574(7779):532-537. doi: 10.1038/s41586-019-1672-7. Epub 2019 Oct 23. Nature. 2019. PMID: 31645730
Extensive heterogeneity in somatic mutation and selection in the human bladder.
Lawson ARJ, Abascal F, Coorens THH, Hooks Y, O'Neill L, Latimer C, Raine K, Sanders MA, Warren AY, Mahbubani KTA, Bareham B, Butler TM, Harvey LMR, Cagan A, Menzies A, Moore L, Colquhoun AJ, Turner W, Thomas B, Gnanapragasam V, Williams N, Rassl DM, Vöhringer H, Zumalave S, Nangalia J, Tubío JMC, Gerstung M, Saeb-Parsy K, Stratton MR, Campbell PJ, Mitchell TJ, Martincorena I. Lawson ARJ, et al. Among authors: sanders ma. Science. 2020 Oct 2;370(6512):75-82. doi: 10.1126/science.aba8347. Science. 2020. PMID: 33004514
2,517 results