A single nucleotide polymorphism significantly and independently associated with melanoma risk is identified in a gene otherwise associated with obesity.
Known genetic risk factors for melanoma include rare, highly penetrant variants in several genes, including CDKN2A, CDK4 and BAP1; at least 11 common variants with less effect identified by genome-wide association studies; and a recurrent variant with medium effect in the MITF gene. Several international groups combined forces, sharing genome-wide single nucleotide polymorphism (SNP) data to look for lower-risk alleles among melanoma cases.
Genotypes of 1373 cases and 3571 controls (and 12,314 other cases and 55,667 other controls in additional replication analyses) pointed to FTO, a gene that has up to now been primarily associated with body-mass index (BMI). Three SNPs in intron 8 of FTO were significantly associated with melanoma, especia…
Reviewing Author
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)
DisclosuresConsultant / advisory board Lubax; WorldCare Clinical
EquityLubax
Grant / Research support NIH; Department of Defense; American Skin Association; Piramal
Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology
Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)