Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab
Author:
Funder
National Health and Medical Research Council
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Immunology
Link
http://link.springer.com/article/10.1007/s00251-019-01108-x/fulltext.html
Reference17 articles.
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2. Damato B, Heimann H (2013) Personalized treatment of uveal melanoma. Eye (Lond) 27:172–179. https://doi.org/10.1038/eye.2012.242
3. Furney SJ, Pedersen M, Gentien D, Dumont AG, Rapinat A, Desjardins L, Turajlic S, Piperno-Neumann S, de la Grange P, Roman-Roman S, Stern MH, Marais R (2013) SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 3:1122–1129. https://doi.org/10.1158/2159-8290.CD-13-0330
4. Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM (2013) Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 45:133–135. https://doi.org/10.1038/ng.2523
5. Hendrich B, Hardeland U, Ng HH, Jiricny J, Bird A (1999) The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites. Nature 401:301–304. https://doi.org/10.1038/45843
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