Fig. 3 | Nature Communications

Fig. 3

From: Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes

Fig. 3

Mutual exclusivity analysis of bi-allelic alterations in HR-related genes and reclassification of VUSs based on genomics information. a Bi-allelic pathogenic alterations are mutually exclusive using two different statistical tests (p = 0.022, WExT, saddle point approximation of COMET; p = 0.025, permutation, methods). Inclusion of VUSs also demonstrates mutual exclusivity(p = 0.04, WExT). b VUSs in CDK12 and BRCA1. Size of circle indicates LST scores, while the blue filling corresponds to the proportion of signature 3-related mutations. Interestingly, 3 of 4 BRCA1 VUSs occurred in regions enriched for loss of heterozygosity (LOH), and are associated with an increased likelihood of a functional deficit in HR38. Variants discussed in text indicated in red

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