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

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, Philippe Saiag, Dirk Schadendorf, Nadem Soufir, Ichiro Okamoto, Paul AffleckZaida García-Casado, Zighereda Ogbah, Aija Ozola, Paola Queirolo, Antje Sucker, Jennifer H. Barrett, Remco van Doorn, D. Timothy Bishop, Julia Newton-Bishop

Research output: Contribution to journalArticlepeer-review

57 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)384-394
Number of pages11
JournalPigment Cell and Melanoma Research
Issue number3
Publication statusPublished - May 2012
Externally publishedYes


  • Forest plot
  • MC1R
  • Melanoma
  • MITF
  • Survival analysis

Field of Science*

  • 1.6 Biological sciences
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


Dive into the research topics of 'Inherited variants in the MC1R gene and survival from cutaneous melanoma: A BioGenoMEL study'. Together they form a unique fingerprint.

Cite this