Prevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained Individuals

What is the prevalence of pathogenic variants in familial melanoma genes among the general population and what are the associated cancer risks?In this cohort study including 696 665 genomically ascertained individuals from population-scale genomic cohorts in the UK and US, the combined prevalence of pathogenic variants in these genes ranged from 0.5% to 0.9%, and notably exceeded the 2.5% clinical testing threshold for participants with multiple melanomas or a first melanoma before age 40 years. Case-control analyses identified several potentially novel gene-cancer associations.These findings may be used to help revise germline testing recommendations and cancer risk counseling.

Corresponding Author: Michael R. Sargen, MD, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, 9609 Medical Center Dr, Room 6E-524, Rockville, MD 20850 (michael.sargen@nih.gov).

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