Dataset Information
Data Access Committee for Institut Curie
Ontology highlight
ABSTRACT:
PROVIDER: EGAC00001000670 | EGA |
REPOSITORIES: EGA
Publications
A GWAS in uveal melanoma identifies risk polymorphisms in the <i>CLPTM1L</i> locus.
NPJ genomic medicine 20170310
Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1.7, CI 1.43-2.05). This locus was replicated in an independent set of 276 cases and 184 controls. In addition, risk variants from this region were positively associated with higher expression of <i>CL ...[more]