Melanoma cases demonstrate increased carrier frequency of Phenylketonuria/hyperphenylalanemia mutations.
Pigment Cell Melanoma Res 2018 Feb 23. Epub 2018 Feb 23.
Department of Nutrition, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH, 44106, USA.
Identifying novel melanoma genetic risk factors informs screening and prevention efforts. Mutations in the phenylalanine hydroxylase gene (the causative gene in phenylketonuria) lead to reduced pigmentation in untreated phenylketonuria patients, and reduced pigmentation is associated with greater melanoma risk. Therefore, we sought to characterize the relationship between phenylketonuria carrier status and melanoma risk. Read More