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POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. Robles-Espinoza CD, et al. Among authors: tiffen jc. Nat Genet. 2014 May;46(5):478-481. doi: 10.1038/ng.2947. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686849 Free PMC article.
Inactivating CUX1 mutations promote tumorigenesis.
Wong CC, Martincorena I, Rust AG, Rashid M, Alifrangis C, Alexandrov LB, Tiffen JC, Kober C; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium; Green AR, Massie CE, Nangalia J, Lempidaki S, Döhner H, Döhner K, Bray SJ, McDermott U, Papaemmanuil E, Campbell PJ, Adams DJ. Wong CC, et al. Among authors: tiffen jc. Nat Genet. 2014 Jan;46(1):33-8. doi: 10.1038/ng.2846. Epub 2013 Dec 8. Nat Genet. 2014. PMID: 24316979 Free PMC article.
Targeting activating mutations of EZH2 leads to potent cell growth inhibition in human melanoma by derepression of tumor suppressor genes.
Tiffen JC, Gunatilake D, Gallagher SJ, Gowrishankar K, Heinemann A, Cullinane C, Dutton-Regester K, Pupo GM, Strbenac D, Yang JY, Madore J, Mann GJ, Hayward NK, McArthur GA, Filipp FV, Hersey P. Tiffen JC, et al. Oncotarget. 2015 Sep 29;6(29):27023-36. doi: 10.18632/oncotarget.4809. Oncotarget. 2015. PMID: 26304929 Free PMC article.
35 results