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Wiley, Pigment Cell & Melanoma Research, 3(25), p. 384-394, 2012

DOI: 10.1111/j.1755-148x.2012.00982.x

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Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

Journal article published in 2012 by John R. Davies, Juliette Randerson-Moor, Kairen Kukalizch, Mark Harland, Rajiv Kumar, Srinivasan Madhusudan, Eduardo Nagore, Johan Hansson, Veronica Höiom, Paola Ghiorzo, Nelleke A. Gruis, Peter A. Kanetsky, Judith Wendt, Dace Pjanova, Susana Puig and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Inherited MC1R variants modulate MITF transcription factor signaling, which in turn affects tumor cell proliferation, apoptosis, and DNA repair. The aim of this BioGenoMEL collaborative study in 10 melanoma cohorts was to test the hypothesis that inherited variants thereby moderate survival expectation. A survival analysis in the largest cohort (Leeds) was carried out adjusting for factors known to impact on survival. The results were then compared with data from nine smaller cohorts. The absence of any consensus MC1R alleles was associated with a significantly lower risk of death in the Leeds set (HR, 0.64; 95% CI, 0.46–0.89) and overall in the 10 data sets (HR, 0.78; 95% CI, 0.65–0.94) with some support from the nine smaller data sets considered together (HR, 0.83; 95% CI, 0.67–1.04). The data are suggestive of a survival benefit for inherited MC1R variants in melanoma patients.