Table 3.

List of BRCA1/2 pathogenetic variations and HRD score on a retrospective series of n=20 patients with HGSOC inspected with commercially available NGS assays

Sample ID	Gene	Centre #1			Centre #2		Centre #3
		Results	HRD SOPHiA	GSS Myriad	Results	HRD score	Results	GSS
ID_1	BRCA1/2	WT	3.4	40	WT	LOH*	WT	77.7
ID_2	BRCA1/2	WT	16.8	60	WT	NEG	WT	98.7
ID_3	BRCA1/2	WT	5.3	53	WT	LOH	WT	92.7
ID_4	BRCA1/2	WT	−1.6	47	WT	LOH	WT	88.3
ID_5	BRCA1/2	WT	−3.3	28	WT	NEG	WT	17.1
ID_6	BRCA1/2	WT	−11.4	3	p.Glu577AsnfsTer11	NEG	WT	4.1
ID_7	BRCA1/2	WT	−18.8	18	WT	NEG	WT	11.8
ID_8	BRCA1/2	WT	−10.7	16	WT	NEG	WT	7.2
ID_9	BRCA1/2	WT	−11	15	WT	NEG	WT	19
ID_10	BRCA1/2	WT	−1.4	23	WT	NEG	NA	NA
ID_11	BRCA1/2	WT	11.9	75	WT	NEG	NA	NA
ID_12	BRCA1/2	WT	−5.4	15	WT	NEG	WT	6.5
ID_13	BRCA1/2	WT	12.6	56	WT	NEG	WT	99.3
ID_14	BRCA1/2	WT	−15.5	9	WT	NEG	WT	7.9
ID_15	BRCA1/2	WT	−21.3	2	WT	NEG	WT	0.7
ID_16	BRCA1/2	WT	14.9	55	WT	LOH	WT	89.7
ID_17	BRCA1/2	WT	−5.7	34	WT	NEG	WT	50.1*
ID_18	BRCA1/2	WT	−12.4	19	WT	NEG	NA	NA
ID_19	BRCA1/2	WT	8.1	56	WT	LOH	WT	97.2
ID_20	BRCA1/2	WT	−9.6	25	WT	NEG	WT	19.3

HRD positive (green) and negative (red) status is shown.

*Borderline results.

BRCA, BReast CAncer associated gene; GSS, Genomic Scar Score; HRD, homologous recombination deficiency; ID, identify number; LOH, loss of heterozygosis; NA, not assessed; NEG, negative; NGS, next-generation sequencing; WT, wild-type.