The mutational burden of acral melanoma revealed by whole‐genome sequencing and comparative analysis. (30th June 2014)

• Record Type: Journal Article
• Authors: Furney, Simon J.; Turajlic, Samra; Stamp, Gordon; Thomas, J. Meirion; Hayes, Andrew; Strauss, Dirk; Gavrielides, Mike; Xing, Wei; Gore, Martin; Larkin, James; Marais, Richard
• Is Part Of: Pigment cell & melanoma research. Volume 27:Number 5(2014:Sep.)
• Page Start: 835
• Page End: 838
• Publication Date: 2014-06-30
• Subjects: Melanoma -- Periodicals; Chromatophores -- Periodicals; Animal pigments -- Periodicals; 616.99477
• DOI: 10.1111/pcmr.12279
• Languages: English
• ISSNs: 1755-1471

Abstract

<abstract abstract-type="main" id="pcmr12279-abs-0001"> <title>Summary</title> <p>Acral melanoma is a subtype of melanoma with distinct epidemiological, clinical and mutational profiles. To define the genomic alterations in acral melanoma, we conducted whole‐genome sequencing and SNP array analysis of five metastatic tumours and their matched normal genomes. We identified the somatic mutations, copy number alterations and structural variants in these tumours and combined our data with published studies to identify recurrently mutated genes likely to be the drivers of acral melanomagenesis. We compared and contrasted the genomic landscapes of acral, mucosal, uveal and common cutaneous melanoma to reveal the distinctive mutational characteristics of each subtype.</p> </abstract>