QIMR Berghofer

The MC1R r allele does not increase melanoma risk in MITF E318K carriers.

Abstract

Population-wide screening for melanoma is not cost-effective, but genetic characterization could facilitate risk stratification and targeted screening. Common Melanocortin-1 receptor (MC1R) red hair colour (RHC) variants and Microphthalmia-associated transcription factor (MITF) E318K separately confer moderate melanoma susceptibility, but their interactive effects are relatively unexplored.

Authors Wallingford, CK; Demeshko, A; Krishnakripa, AK; Smit, DJ; Duffy, DL; Betz-Stablein, B; Pflugfelder, A; Jagirdar, K; Holland, E; Mann, GJ; Primiero, CA; Yanes, T; Malvehy, J; Badenas, C; Carrera, C; Aguilera, P; Olsen, CM; Ward, SV; Haass, NK; Sturm, RA; Puig, S; Whiteman, DC; Law, MH; Cust, AE; Potrony, M; Soyer, HP; McInerney-Leo, AM
Journal BRITISH JOURNAL OF DERMATOLOGY
Pages 770-776
Volume 188
Date 24/05/2023
Grant ID NIH HHS [NH] (United States)
Funding Body
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1093/bjd/ljad041