Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

(2018) Manuel Rodrigues et al.   Nature Communications

MBD4 guards against methylation damage and germline deficiency predisposes to clonal hematopoiesis and early-onset AML

(2018) Mathijs A. Sanders et al.   BLOOD

Drug Combinations as the New Standard for Melanoma Treatment

(2016) Marta Polkowska et al.   CURRENT TREATMENT OPTIONS IN ONCOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

(2015) Peter Johansson et al.   Oncotarget

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

(2013) Marcel Martin et al.   NATURE GENETICS

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

(2013) J William Harbour et al.   NATURE GENETICS

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

(2013) S. J. Furney et al.   Cancer Discovery

Personalized treatment of uveal melanoma

(2012) B Damato et al.   EYE

Survival in Patients With Uveal Melanoma in Europe

(2008) Gianni Virgili   ARCHIVES OF OPHTHALMOLOGY