Familial Melanoma Genes May Increase Risk for More Cancers Than Previously Thought

WEDNESDAY, May 27, 2026 (HealthDay News) -- The combined pathogenic variant prevalence for clinically actionable familial melanoma genes ranged from 0.5 to 0.9 percent across two cohorts, according to a study published online May 27 in JAMA Dermatology.Alisa M. Goldstein, Ph.D., from the National Cancer Institute in Rockville, Maryland, and colleagues estimated the prevalence of pathogenic variants in clinically actionable familial melanoma genes and their associated cancer risks in a genome-first analysis of 696,665 individuals from two population-scale genomically ascertained cohorts of individuals registered in the U.K. Biobank (UKBB) and the U.S. Geisinger MyCode (GMC) databases (227,286 and 469,379 individuals, respectively).The researchers found that across all genes evaluated (ACD, BAP1, CDKN2A, CDK4, MITF E318K, POT1, TERF2IP, and TERT promoter), the combined prevalence of the pathogenic variants ranged from 0.5 percent (GMC) to 0.9 percent (UKBB) in the cohorts. Pathogenic variant prevalence exceeded the 2.5 percent threshold commonly used to recommend germline testing for high- and moderate-penetrance cancer susceptibility genes among individuals with multiple cutaneous melanomas or a first cutaneous melanoma diagnosed before age 40 years. Established associations for CDKN2A, MITF E318K, and POT1 were replicated in case-control analyses. Additional associations, which were either novel or inconsistently reported, were seen for BAP1, CDKN2A, MITF E318K, and POT1. Cutaneous melanoma developed at younger ages in individuals with CDKN2A pathogenic variants or MITF E318K."These findings may help inform genetic testing recommendations and suggest that several familial melanoma genes may increase risk for a broader spectrum of cancers than previously recognized," the authors write.Several authors disclosed ties to the biopharmaceutical industry.Abstract/Full Text (subscription or payment may be required)Editorial (subscription or payment may be required).Sign up for our weekly HealthDay newsletter

Familial Melanoma Genes May Increase Risk for More Cancers Than Previously Thought

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