Gender Disparity and Mutation Burden in Metastatic Melanoma

摘要: Gender differences in melanoma incidence and outcome have been consistently observed but remain biologically unexplained. We hypothesized that tumors are genetically distinct between men women analyzed the mutation spectra 266 metastatic melanomas (102 164 men) from The Cancer Genome Atlas (TCGA). found a statistically significantly greater burden of missense mutations among (male median 298 vs female = 211.5; male-to-female ratio [M:F] 1.85, 95% confidence interval [CI] 1.44 to 2.39). validated these initial findings using available data separate exome cohort (n 95) similar increase 393 259; M:F 1.59, CI 1.12 2.27). In addition, we improved survival with increasing log-transformed count (univariate hazard 0.82, 0.69 0.98) for TCGA samples. Our analyses demonstrate first time gender difference cutaneous melanoma.