Schematic representation of BRCA1/2 clinically relevant molecular alterations and HRD score (pathogenetic and VUS alterations according to ClinVar database) detected by each participating institution on reference DNA sample (OncoSpan gDNA reference standard, Horizon Discovery, Cambridge, UK)
| Centre #1 | Centre #2 | Centre #3 | ||||
| Gene | Results | GIS SOPHiA | Results | HRD score | Results | GSS Amoy |
| BRCA1 | c.4327C>T: p.(Arg1443*) (pathogenetic) | −11.2 (NEG) | c.4327C>T: p.(Arg1443*) (pathogenetic) | NEG | c.4327C>T: p.(Arg1443*) (pathogenetic) | NEG |
| BRCA2 | c.8021dup: p.(Ile2675Aspfs*6) (pathogenetic) | c.5073del: p.(Lys1691Asnfs*15) (VUS) | c.8021dup: p.(Ile2675Aspfs*6) (pathogenetic) | |||
| c.5073del: p.(Lys1691Asnfs*15) (VUS) | c.5073del: p.(Lys1691Asnfs*15) (VUS) | |||||
| c.5351del: p.(Asn1784Thrfs*7) (pathogenetic) | ||||||
| c.5351del: p.(Asn1784Thrfs*7) (pathogenetic) | c.5351del: p.(Asn1784Thrfs*7) (pathogenetic) | |||||
BRCA, BReast CAncer associated gene; GIS, Genomic Instability Score; GSS, Genomic Scar Score; HRD, homologous recombination deficiency; NEG, negative; VUS, variant of uncertain significance.