phs001596
Molecular characterization of acral melanoma
Acral melanoma affects world populations irrespective of skin color. It has comparatively few single nucleotide mutations, but exhibits genomic instability characterized by structural rearrangements and amplifications. As acral melanoma harbors BRAF (GeneID:673) mutations at low frequencies, we searched for alternative therapeutic targets. We performed targeted deep sequencing of cancer-related genes on 122 acral melanomas and identified point mutations, structural rearrangements and copy number alterations.