Extended Data Fig. 5Figure 8
Validation of concurrent RB1 and BRCA2 LOH in external g BRCA2 WES cohort. FACETS was performed on whole-exome sequencing of g BRCA2 breast cancer samples from Abramson Cancer Center at the University of Pennsylvania (n = 24), and the Mayo Clinic (n = 22). Of these samples, 38 (82.6%) demonstrated concurrent LOH of BRCA2 and RB1 . The association between RB1 LOH and BRCA2 LOH was statistically significant by two-sided Fisher’s exact test (OR = Inf, 95% CI: 11.12 – Inf, P < 0.00001).