title: The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis.
abstract: 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.
authors.affiliation: Molecular Oncology Group, Cancer Research UK Manchester Institute, Manchester, UK.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Furney
authors.forename: Samra
authors.initials: S
authors.lastname: Turajlic
authors.forename: Gordon
authors.initials: G
authors.lastname: Stamp
authors.forename: J Meirion
authors.initials: JM
authors.lastname: Thomas
authors.forename: Andrew
authors.initials: A
authors.lastname: Hayes
authors.forename: Dirk
authors.initials: D
authors.lastname: Strauss
authors.forename: Mike
authors.initials: M
authors.lastname: Gavrielides
authors.forename: Wei
authors.initials: W
authors.lastname: Xing
authors.forename: Martin
authors.initials: M
authors.lastname: Gore
authors.forename: James
authors.initials: J
authors.lastname: Larkin
authors.forename: Richard
authors.initials: R
authors.lastname: Marais
mesh_terms: D004249:DNA Damage; D004252:DNA Mutational Analysis; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*; D000096142:Cutaneous Malignant Melanoma
keywords: acral melanoma; mutational burden; somatic mutations; whole-genome sequencing