The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls

Source: MDLinx, January 2020

This study was undertaken to determine if the level of UV damage at the site of melanomas was correlated with genetic polymorphisms. For this investigation, they performed deep phenotyping on 1,244 people: 281 with multiple primary melanomas (MPM), 304 with single primary melanoma (SPM) and 659 convenience controls. In sites with visible chronic UV damage, most cases of MPM were diagnosed > 40 years. Females and those diagnosed at ? 40 years were less inclined to have perilesional UV damage. In early-onset MPM cases, naevus count was comparable and those diagnosed >40 years. The cohort showed higher frequencies of previously reported alleles related to melanoma. MPM melanomas are more common in UV-damaged areas and are more likely to carry MC1R RHC alleles in these individuals. Being aware of the interplay between genetic vulnerability and UV damage will stratify melanoma screening risk and guide recommendations.

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