FIGURE 3.

Characterization of uterine lavage mutations by gene. A, The location and distribution of mutations in uterine lavage samples mirror those identified in ovarian carcinomas. Top panels show the location by codon position of somatic mutations identified in uterine lavage, with mutation counts plotted on the Y axis. Lower panels show mutations identified in ovarian carcinomas in COSMIC. Indels are excluded as they might span multiple codon locations. Areas of the gene not captured in the DS panel are grayed out. Gene domains are highlighted in the legends. B, Percentage of cancer driver mutations identified for each gene in the entire cohort (left) and distribution of mutation type per gene (right). Cancer driver mutations are defined, in oncogenes, as substitutions occurring in common hotspots codons and, in tumor suppressor genes, as substitutions occurring in common hotspots codons plus insertion/deletions, nonsense, and splice mutations. C, The VAF of driver versus non-driver mutations identified in the entire cohort is displayed by gene. Only genes that exhibited mutations in >50% of the uterine lavage samples are shown. Each circle represents a unique mutation. Overlying box plots display the quartiles with whiskers extending up to 1.5× the interquartile range. Bar plots above display the total number of mutations in each group and the distribution between driver and non-driver. P values correspond to Mann–Whitney U tests.