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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: roberts aw. 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. Among authors: roberts aw. 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.
Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia.
Blombery P, Anderson MA, Gong JN, Thijssen R, Birkinshaw RW, Thompson ER, Teh CE, Nguyen T, Xu Z, Flensburg C, Lew TE, Majewski IJ, Gray DHD, Westerman DA, Tam CS, Seymour JF, Czabotar PE, Huang DCS, Roberts AW. Blombery P, et al. Among authors: roberts aw. Cancer Discov. 2019 Mar;9(3):342-353. doi: 10.1158/2159-8290.CD-18-1119. Epub 2018 Dec 4. Cancer Discov. 2019. PMID: 30514704
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias.
Thijssen R, Diepstraten ST, Moujalled D, Chew E, Flensburg C, Shi MX, Dengler MA, Litalien V, MacRaild S, Chen M, Anstee NS, Reljić B, Gabriel SS, Djajawi TM, Riffkin CD, Aubrey BJ, Chang C, Tai L, Xu Z, Morley T, Pomilio G, Bruedigam C, Kallies A, Stroud DA, Bajel A, Kluck RM, Lane SW, Schoumacher M, Banquet S, Majewski IJ, Strasser A, Roberts AW, Huang DCS, Brown FC, Kelly GL, Wei AH. Thijssen R, et al. Among authors: roberts aw. Blood. 2021 May 20;137(20):2721-2735. doi: 10.1182/blood.2020010167. Blood. 2021. PMID: 33824975 Free PMC article.
Single-cell multiomics reveal the scale of multilayered adaptations enabling CLL relapse during venetoclax therapy.
Thijssen R, Tian L, Anderson MA, Flensburg C, Jarratt A, Garnham AL, Jabbari JS, Peng H, Lew TE, Teh CE, Gouil Q, Georgiou A, Tan T, Djajawi TM, Tam CS, Seymour JF, Blombery P, Gray DHD, Majewski IJ, Ritchie ME, Roberts AW, Huang DCS. Thijssen R, et al. Among authors: roberts aw. Blood. 2022 Nov 17;140(20):2127-2141. doi: 10.1182/blood.2022016040. Blood. 2022. PMID: 35709339 Free PMC article.
The BCL2 selective inhibitor venetoclax induces rapid onset apoptosis of CLL cells in patients via a TP53-independent mechanism.
Anderson MA, Deng J, Seymour JF, Tam C, Kim SY, Fein J, Yu L, Brown JR, Westerman D, Si EG, Majewski IJ, Segal D, Heitner Enschede SL, Huang DC, Davids MS, Letai A, Roberts AW. Anderson MA, et al. Among authors: roberts aw. Blood. 2016 Jun 23;127(25):3215-24. doi: 10.1182/blood-2016-01-688796. Epub 2016 Apr 11. Blood. 2016. PMID: 27069256 Free PMC article.
335 results