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

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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

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 - 7 Mar 2017

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10.1111/pcmr.12571

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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 melanomapatients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1Rvariant status with overall mutation burden and specific base pair changes observed in the correspondingmelanoma. We observed statistically significant associations between mutation burden in melanoma and bodysite, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature",

author = "Johansson, {Peter A.} and Pritchard, {Antonia L.} and Ann-Marie Patch 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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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 - 2017/3/7

Y1 - 2017/3/7

N2 - Whole-genome sequencing of matched germline and tumour pairs in a well-characterized cohort of melanomapatients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1Rvariant status with overall mutation burden and specific base pair changes observed in the correspondingmelanoma. We observed statistically significant associations between mutation burden in melanoma and bodysite, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature

AB - Whole-genome sequencing of matched germline and tumour pairs in a well-characterized cohort of melanomapatients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1Rvariant status with overall mutation burden and specific base pair changes observed in the correspondingmelanoma. We observed statistically significant associations between mutation burden in melanoma and bodysite, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature

U2 - 10.1111/pcmr.12571

DO - 10.1111/pcmr.12571

M3 - Article

SN - 1755-1471

VL - 30

SP - 255

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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