title: Mutation load in melanoma is affected by MC1R genotype.
abstract: Whole-genome sequencing of matched germline and tumour pairs in a well-characterized cohort of melanoma patients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1R variant status with overall mutation burden and specific base pair changes observed in the corresponding melanoma. We observed statistically significant associations between mutation burden in melanoma and body site, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature changes (C>T and CC>TT) and non-UVR base pair substitutions, as well as with overall variant load.
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
authors.forename: Peter A
authors.identifier: 0000-0001-7015-5452
authors.initials: PA
authors.lastname: Johansson
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
authors.forename: Antonia L
authors.initials: AL
authors.lastname: Pritchard
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Patch
authors.affiliation: Melanoma Institute Australia, Sydney, NSW, Australia.|Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
authors.forename: James S
authors.initials: JS
authors.lastname: Wilmott
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
authors.forename: John V
authors.initials: JV
authors.lastname: Pearson
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
authors.forename: Nicola
authors.initials: N
authors.lastname: Waddell
authors.affiliation: Melanoma Institute Australia, Sydney, NSW, Australia.|Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.|Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Scolyer
authors.affiliation: Melanoma Institute Australia, Sydney, NSW, Australia.|Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, NSW, Australia.
authors.forename: Graham J
authors.initials: GJ
authors.lastname: Mann
authors.affiliation: QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.|Melanoma Institute Australia, Sydney, NSW, Australia.
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Hayward
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D014466:Ultraviolet Rays; D055815:Young Adult
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: MC1R; cutaneous melanoma; mutation burden