Table 2.

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.