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Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study
Author(s) -
Davies John R.,
RandersonMoor Juliette,
Kukalizch Kairen,
Harland Mark,
Kumar Rajiv,
Madhusudan Srinivasan,
Nagore Eduardo,
Hansson Johan,
Höiom Veronica,
Ghiorzo Paola,
Gruis Nelleke A.,
Kanetsky Peter A.,
Wendt Judith,
Pjanova Dace,
Puig Susana,
Saiag Philippe,
Schadendorf Dirk,
Soufir Nadem,
Okamoto Ichiro,
Affleck Paul,
GarcíaCasado Zaida,
Ogbah Zighereda,
Ozola Aija,
Queirolo Paola,
Sucker Antje,
Barrett Jennifer H.,
van Doorn Remco,
Bishop D. Timothy,
NewtonBishop Julia
Publication year - 2012
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/j.1755-148x.2012.00982.x
Subject(s) - melanoma , gene , genetics , biology , melanocortin 1 receptor , phenotype , medicine
Summary 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.