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Int J Cancer. 2017 Jan 19. doi: 10.1002/ijc.30605. [Epub ahead of print]

IRF4 rs12203592 functional variant and melanoma survival.

Author information

  • 1Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
  • 2Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
  • 3Department of Dermatology, University Hospital Essen, Essen, Germany & German Cancer Consortium, Heidelberg, Germany.
  • 4Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.


Inherited genetic factors may modulate clinical outcome in melanoma. Some low-to-medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona, N = 493 and Essen, N = 438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: odds ratio [OR] = 6.53, 95% CI 1.38-30.87, Adj p = 0.032; Essen: OR = 1.68, 95% CI 1.04-2.72, Adj p = 0.035). Survival analyses only showed significance for the Barcelona set (hazard ratio = 4.58, 95% CI 1.11-18.92, Adj p = 0.036). This SNP was also associated with tumour localization, increasing the risk of developing melanoma in head or neck (OR = 1.79, 95% CI 1.07-2.98, Adj p = 0.032) and protecting from developing melanoma in the trunk (OR = 0.59, 95% CI 0.41-0.85, Adj p = 0.004). These findings suggest for the first time that IRF4 rs12203592 plays a role in the modulation of melanoma outcome and confirms its contribution to the localization of the primary tumour.


IRF4; genetics; melanoma; prognosis; survival

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