Fig. 5: Genetic basis for HRD and BRCA VUS reclassification. | Communications Biology

Fig. 5: Genetic basis for HRD and BRCA VUS reclassification.

From: Copy number alteration features in pan-cancer homologous recombination deficiency prediction and biology

Fig. 5

a The incidence of biallelic pathogenic mutations in HR-related genes in samples that are predicted to be HRD or HRP by HRDCNA in the TCGA dataset. b The HRDCNA scores for TCGA and 560 breast datasets of cancer patients with BRCA1/2 VUS and LOH are shown. c Distributions of VUS on BRCA proteins. BRCA1/2 amino acid loci of known pathogenic variants and pathogenic variants predicted by HRDCNA are shown. The position of functional regions of BRCA 1/2 proteins and interacting proteins are obtained from UniPort databases, and pathogenic variants are defined based on ClinVar database. Vertical positions represent different kinds of amino acids. BARD1 BRCA1-associated RING domain protein 1, NLS nuclear localization sequence, PALB2 partner and localizer of BRCA2, BRCT BRCA1 C-terminus, BRC repeats ~30–40 residue long sequence regions in BRC2 protein, NPM1 nucleophosmin 1, RAD51 DNA repair protein RAD51 homolog 1, POLH DNA Polymerase Eta, HSF2BP Heat shock factor 2-binding protein, FACD2 Fanconi anemia group D2 protein, SEM1 26 S proteasome complex subunit SEM1.

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