Table 1.

Coverage of 15 HRR genes by the assays used in this study.

	BRCA1	BRCA2	ATM	BARD1	BRIP1	CDK12	CHEK1	CHEK2	FANCL	PALB2	PPP2R2A	RAD51B	RAD51C	RAD51D	RAD54L
Initial analysis
FoundationOne (tumour tissue, CLIA)
Color Genomics (blood, germline DNA, CLIA)
AZ100 (plasma, ctDNA, RUO)	#	#	#	#	#	#	#	*	#	#	#	#	#	#	#
Final analysis
Guardant OMNI (plasma, ctDNA, RUO)								*
FoundationACT (v2) (plasma, ctDNA, CLIA)								*
Resolution Bioscience custom ctDx HRR (plasma, ctDNA, RUO)								*
AZ LPWG (plasma, ctDNA, RUO)	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
30× WGS (HLI, RUO)

Gray blocks indicate genes covered by the assay, white-not covered. Assays covered entire coding sequences of all listed genes. Sensitivity for small mutations was typically 0.25–0.5% for all plasma ctDNA assays employed. * Some deleterious CHEK2 variants in ctDNA excluded from analysis due to confirmed/suspected clonal haematopoiesis of indeterminate potential. # Marked ctDNA assays also covered deletion/loss (sensitivity dependent on ctDNA input and tumour fraction). + LPWG plasma data allowed analysis of ctDNA copy number alterations only. The 30× WGS from blood allowed analysis for all variant types in germline. AZ, AstraZeneca; CLIA, clinical laboratory improvement amendments; ctDNA, circulating tumour DNA; HLI, Human Longevity Inc.; HRR, homologous recombination repair; LPWG, low-pass whole genome; RUO, research use only; WGS, whole genome sequencing.