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Mutation load in melanoma is affected by MC 1R genotype
Author(s) -
Johansson Peter A.,
Pritchard Antonia L.,
Patch AnnMarie,
Wilmott James S.,
Pearson John V.,
Waddell Nicola,
Scolyer Richard A.,
Mann Graham J.,
Hayward Nicholas K.
Publication year - 2017
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12571
Subject(s) - melanoma , genotype , genetics , mutation , germline , germline mutation , biology , cancer research , gene
Summary 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 MC 1R 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 MC 1R 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.