Tagliabue, E, Gandini, S, Bellocco, R et al. (15 more authors) (2018) MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled-analysis from the M-SKIP project. Cancer Management and Research, 10. pp. 1143-1154. ISSN 1179-1322
Abstract
Purpose: Melanoma represents an important public health problem, due to its high case-fatality rate. Identification of individuals at high risk would be of major interest to improve early diagnosis and ultimately survival. The aim of this study was to evaluate whether MC1R variants predicted melanoma risk independently of at-risk phenotypic characteristics.
Materials and methods: Data were collected within an international collaboration – the M-SKIP project. The present pooled analysis included data on 3,830 single, primary, sporadic, cutaneous melanoma cases and 2,619 controls from seven previously published case–control studies. All the studies had information on MC1R gene variants by sequencing analysis and on hair color, skin phototype, and freckles, ie, the phenotypic characteristics used to define the red hair phenotype.
Results: The presence of any MC1R variant was associated with melanoma risk independently of phenotypic characteristics (OR 1.60; 95% CI 1.36–1.88). Inclusion of MC1R variants in a risk prediction model increased melanoma predictive accuracy (area under the receiver-operating characteristic curve) by 0.7% over a base clinical model (P=0.002), and 24% of participants were better assessed (net reclassification index 95% CI 20%–30%). Subgroup analysis suggested a possibly stronger role of MC1R in melanoma prediction for participants without the red hair phenotype (net reclassification index: 28%) compared to paler skinned participants (15%).
Conclusion: The authors suggest that measuring the MC1R genotype might result in a benefit for melanoma prediction. The results could be a valid starting point to guide the development of scientific protocols assessing melanoma risk prediction tools incorporating the MC1R genotype.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2018 Tagliabue et al. This is an open access article under the terms of the Creative Commons Attribution License (CC BY-NC-3.0). A copy of the licence can be found at: https://creativecommons.org/licenses/by-nc/3.0/. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
Keywords: | Pooled-analysis; genetic epidemiology; cutaneous melanoma; melanocortin 1 receptor; pigmentation |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Epidemiology and Biostatistics (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 26 Feb 2018 11:36 |
Last Modified: | 17 May 2018 09:10 |
Status: | Published |
Publisher: | Dove Medical Press |
Identification Number: | 10.2147/CMAR.S155283 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:127790 |
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Filename: CMAR-155283-mc1r-variants-as-melanoma-risk-factor-independent-of-at-risk_051118.pdf
Licence: CC-BY-NC 3.0