Fig. 1

Molecular and clinical spectrum of prioritized variants found in 94 HBOC samples screened for variants in 21 DNA repair genes. The graph shows the frequency of prioritized variants identified per gene, and the effect of each variant according to VarSome. The samples were also classified according to the age at diagnosis, molecular subtype and tumor grade. In molecular subtype, TN = Triple-negative subtype; Lum = both Luminal A and Luminal B subtypes, when presenting positivity to estrogen and/or progesterone receptors and lack HER2 expression; LumHER = Luminal positive for all three markers; HER2 = when the HER2 protein is overexpressed with negative estrogen and progesterone receptors; PR = positivity to only progesterone receptors; NI = Not-informed. For the molecular subtypes we also indicate the cases that are not BC cases: Ovarian, Stomach and Endometrium. The bars and the numbers/scale on the top of the figure represent the type and number, respectively, of variants found per sample. The bars and the numbers/scale on the right side of the gene names represent the type and number, respectively, of variants found per gene. The numbers in the bottom represent the samples’ code