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Mutations in the BAP1 gene in uveal melanoma
Author(s) -
KOOPMANS AE,
VAN DEN BOSCH T,
VAARWATER J,
KILIC E,
PARIDAENS D,
NAUS N,
DE KLEIN A
Publication year - 2011
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2011.3366.x
Subject(s) - bap1 , multiplex ligation dependent probe amplification , monosomy , cancer research , melanoma , malignancy , karyotype , chromosome 3 , chromosome , biology , medicine , oncology , gene , pathology , genetics , exon
Purpose Uveal melanoma (UM) is the most frequently occurring intraocular malignancy in adults. UM has a strong tendency to metastasize to the liver. There are no effective therapies for metastatic disease resulting in a tumour‐related death in about 45% of UM patients within 15 years after the initial diagnosis. Monosomy of chromosome 3 is the most frequent found chromosomal aberration in UM and is predominantly found in metastasizing tumours. Chromosome 3 losses can be detected by karyotyping, FISH or DNA based techniques as QPCR/MLPA and Array CGH. We use a combination of FISH and SNP arrays to select patients for a dendritic cell therapy trial. Recently, inactivating somatic mutations were identified in the gene encoding BRCA1‐associated protein 1 (BAP1) on chromosome 3p21.1 in metastasizing tumours. In a retrospective series of UMs we will determine the sensitivity and specificity of mutations in BAP1 and compare these with the currently used predictive standard of monosomy. Methods We will use targeted multiplexed Next Generation Sequencing to determine mutations in the BAP1 gene. Results Our results will follow shortly. Conclusion Conclusions will be drawn when all the results are known.