Figure 1: The genomics of BRCA2-mutant prostate cancer.
From: Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories
(a) Percent genome altered (PGA) and number of SNVs, GRs and CNAs per tumour sample is shown. GRs are stratified by type: orange—deletions (del), green—inversions (inv), purple—duplications (dup), yellow—translocations (ctx). Y axis values for CNAs and GRs are in log10-scale. Box plots compare the number of events observed in BRCA2-mutant specimens versus sporadic PCa samples split into two groups by age. Y axis values are the same as in the adjacent bar plot. Whiskers indicate the maximum and minimum values, the box outline indicates the third and first quartile and the bar indicates the mean. Multiple foci from the same patient are indicated in the same patient covariate colour, where sample type colour indicates IC in blue, IDC in yellow and a mix of IDC and IC in green. Unavailable data is indicated by grey background. (b) Per gene copy-number profiles of 18 prostate tumour specimens from 14 germline BRCA2-mutation carriers, including 4 patients with multifocal disease. Red indicates gain; blue indicates loss. Rows represent specimens and columns represent genes. Top plots show frequency of each gene per group (BRCA2, n=14; sporadic PCa arising in individuals 50 years of age or younger, n=7; sporadic PCa arising in individuals older than 50 years of age, n=276) and the q-value shown is from a two-sided proportion test comparing BRCA2-mutant and all sporadic PCa samples. Genes are ordered by genomic co-ordinates per chromosome. Multiple foci from the same patient are indicated in the same patient covariate colour, where sample type colour indicates IC in blue, IDC in yellow and a mix of IDC and IC in green. (c) Key prostate cancer driver genes that are mutated at elevated proportions in BRCA2-mutant PCa relative to sporadic PCa. Columns are patients, rows are genes, a black square indicates a CNA. Bar plots to the right show the frequency of each gene in the three groups (BRCA2, n=14; sporadic PCa arising in individuals 50 years of age or younger, n=7; sporadic PCa arising in individuals older than 50 years of age, n=276).
