Article
Prevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained Individuals.
JAMA dermatology - 1 Jul 2026
Goldstein Alisa M, Kim Jung, Haley Jeremy S, Li Jiang, Smelser Diane T, Rao H Shanker, Hatton Jessica N, Yang Xiaohong R, Brown Kevin, Tucker Margaret A, Berry Elizabeth G, Waters Andrew J, Adams David J, Linehan W Marston, Kirkwood John M, Kanetsky Peter A, Carey David J, Stewart Douglas R, Sargen Michael R
Abstract excerpt
Importance: The prevalence of germline pathogenic variants in familial melanoma genes has primarily been studied in individuals with a personal or family history of cancer, an approach that may introduce ascertainment bias. Objective: To estimate the prevalence of pathogenic variants in clinically actionable familial melanoma genes and their associated cancer risks. Design, Settings, and Participants: This was a...
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