Mutation load in melanoma is affected by MC1R genotype |
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| Authors: | Peter A Johansson James S Wilmott John V Pearson Nicola Waddell Richard A Scolyer Graham J Mann Nicholas K Hayward |
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| Institution: | 1. QIMR Berghofer Medical Research Institute, Brisbane, QLD, AustraliaThese authors contributed equally.;2. Melanoma Institute Australia, Sydney, NSW, Australia;3. Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia;4. QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia;5. Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia;6. Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, NSW, Australia |
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| 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. |
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| Keywords: | MC1R cutaneous melanoma mutation burden |
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