Fig. 1: MC1R expression is associated with breast cancer.
a The MC1R R% allele frequency across cancers in The Cancer Genome Atlas (TCGA). The orange dashed line indicates the R% allele frequency in control ExAC non-TCGA non-finnish European (NFE) Ancestry population. *p < 0.05 (Fisher’s exact test with Benjamini–Hochberg (BH) multiple comparisons adjustment) compared to the control population. The cancer type abbreviations are expanded and listed in Supplementary Table 2. b MC1R mRNA expression in normal breast, primary, and metastatic breast cancers. Data obtained from TCGA. The dashed lines in the violin plot show the median and the 25th and 75th percentiles. *p < 0.05 (one-way ANOVA with Dunnett’s multiple comparisons). c–h Disease-free survival (DFS) (c, e, g) and progression-free survival (PFS) (d, f, h) of all patients with breast cancer in TCGA (DFS: low expression n = 462, high expression n = 477; PFS: low expression n = 539, high expression n = 541) (c, d), patients carrying active MC1R variants (DFS: low expression n = 395, high expression n = 408; PFS, low expression n = 461, high expression n = 462) (e, f), and patients carrying a disruptive MC1R variant (DFS, low expression n = 67, high expression n = 69; PFS, low expression n = 78, high expression n = 79) (g, h) based on MC1R expression. p-Value calculated using the Log-rank test.
