Fig. 1

Genomic and transcriptomic profiling reveals a highly conserved, rare, and potentially pathogenic germline mutation (c.403G>A) of BARD1 in an early-onset TNBC patient that displayed a homologous recombination deficiency (HRD) somatic mutational signature. a A multiple sequence alignment of five mammalian BARD1 proteins. The highlighted residue 135, Asp (D), is conserved across all the species. b Chromatograms of the DNA sequences of the mutated locus by Sanger sequencing. c Genetic testing results of the patient family. d Genomic profiles of tumor from the patient. Large-scale copy number variations, loss of heterozygosity, and large-scale structural variations indicated an HRD somatic mutational signature. e The mRNA profile of the patient clustered together with the basal-like and immune-suppressed (BLIS) subgroup in a large TNBC cohort of FUSCC. f Somatic and germline mutation profiles of BARD1 in the FUSCC cohort. Germline variants are colored in red, and somatic mutations are colored in blue. Mutations marked with 2 indicates the mutation was detected twice in the TNBC cohort