Mutation load in melanoma is affected by MC1R genotype

Peter A. Johansson; Antonia L. Pritchard; Ann Marie Patch; James S. Wilmott; John V. Pearson; Nicola Waddell; Richard A. Scolyer; Graham J. Mann; Nicholas K. Hayward

doi:10.1111/pcmr.12571

Mutation load in melanoma is affected by MC1R genotype

Peter A. Johansson^*, Antonia L. Pritchard, Ann Marie Patch, James S. Wilmott, John V. Pearson, Nicola Waddell, Richard A. Scolyer, Graham J. Mann, Nicholas K. Hayward

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

19 Citations (Scopus)

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.

Original language	English
Pages (from-to)	255-258
Number of pages	4
Journal	Pigment Cell and Melanoma Research
Volume	30
Issue number	2
DOIs	https://doi.org/10.1111/pcmr.12571
Publication status	Published - 1 Mar 2017
Externally published	Yes

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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.",

keywords = "MC1R, cutaneous melanoma, mutation burden",

author = "Johansson, {Peter A.} and Pritchard, {Antonia L.} and Patch, {Ann Marie} and Wilmott, {James S.} and Pearson, {John V.} and Nicola Waddell and Scolyer, {Richard A.} and Mann, {Graham J.} and Hayward, {Nicholas K.}",

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doi = "10.1111/pcmr.12571",

language = "English",

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T1 - Mutation load in melanoma is affected by MC1R genotype

AU - Johansson, Peter A.

AU - Pritchard, Antonia L.

AU - Patch, Ann Marie

AU - Wilmott, James S.

AU - Pearson, John V.

AU - Waddell, Nicola

AU - Scolyer, Richard A.

AU - Mann, Graham J.

AU - Hayward, Nicholas K.

PY - 2017/3/1

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N2 - 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.

AB - 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.

KW - MC1R

KW - cutaneous melanoma

KW - mutation burden

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EP - 258

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

IS - 2

ER -

Mutation load in melanoma is affected by MC1R genotype

Abstract

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