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. 2021 Jan 4;131(1):e138315. doi: 10.1172/JCI138315

Figure 1. SF3B1 hotspot mutations are recurrent in breast cancer and are significantly associated with mutations activating PI3K signaling and shortened survival.

Figure 1

(A) Oncoprint of somatic alterations in SF3B1 and other breast cancer drivers across 5366 patients from the METABRIC (23, 65), MSK-IMPACT (24), and TCGA (22) breast cancer cohorts. ER, estrogen receptor; PR, progesterone receptor; HER2, human epidermal growth factor receptor 2. (B) SF3B1 mutation maps showing the counts, amino acid change, position, and evidence of mutational hotspots, based on COSMIC database information. The y axis counts at the bottom of the maps reflect the number of identified mutations in the COSMIC database. (C) Purity normalized variant allele frequency (VAF) of PIK3CA and SF3B1 mutations among 51 double-mutated samples in the MSK-IMPACT cohort. (D) Frequency of somatic mutations in patients from the MSK-IMPACT cohort (n = 94) harboring SF3B1 hotspot mutations. Mutation frequency was calculated for each reported gene in 57 primary samples (x axis) and 45 metastasis samples (y axis). (E) Kaplan-Meier curve of disease-free survival in SF3B1 hotspot mutant (n = 13), SF3B1 WT PIK3CA mutant (n = 672), and SF3B1/PIK3CA double-mutant (n = 30) versus WT (n = 772) ER+ breast cancer patients from METABRIC. P values were derived from log-rank test. See also Supplemental Figure 1.