Table 1 –

List of pathogenic mutations in BRCA1/2 or ATM observed in our cohort

ID	Gene	Mutation			Platform used for detection
		Origin	Name	Mechanism
1	BRCA2	Somatic	p.N899I fs*5; p.K1691N fs*15	Frameshift deletions	PGDx-Cancer Select
2	BRCA2	Germline	p.Y2215S fs*13	Frameshift deletion	Color Genomics
3	ATM	Germline	p.S1905I fs*25	Frameshift insertion	Color Genomics
4	BRCA2	Germline	p.N319K fs*8	Frameshift insertion	Color Genomics
5	BRCA2	Germline	p.D3095E	Missense	Color Genomics
6	ATM	Somatic	p.Q284X*	Nonsense	PGDx-Plasma Select
7	BRCA2	Germline	p.D156X*	Nonsense	Color Genomics
8	BRCA2	Germline	p.W1692M fs*3	Frameshift insertion	Color Genomics
9	BRCA2	Somatic	p.S1982R fs*22	Frameshift deletion	Foundation One
10	BRCA1	Germline	p.Y1463X*	Nonsense	Color Genomics
11	BRCA1	Germline	c.4357+1G>A	Splicing	Color Genomics
12	ATM	Somatic	Loss of exons 30–34	Rearrangement	Foundation One
13	BRCA2	Germline	p.S3147C fs*2	Frameshift deletion	Myriad genetics
14	BRCA2	Germline	p.Q2858A fs*5	Frameshift insertion	Caris Genetics
15	BRCA2	Somatic	p.F1546L fs*22	Frameshift deletion	Foundation One
16	ATM	Somatic	p.M1V	Missense	Foundation One
17	ATM	Somatic	p.N405K fs*15	Frameshift deletion	Foundation One
18	ATM	Somatic	1.7 kbp deletion	Rearrangement	UW-Oncoplex
19	BRCA2	Germline	p.L1908R fs*2	Frameshift deletion	Myriad genetics
20	BRCA2	Germline	p.T2125P fs*12	Frameshift deletion	Color Genomics
21	BRCA2	Germline	Exon loss, with hemizygous deletion of somatic allele	Rearrangement	Stand Up 2 Cancer (Ml-OncoSeq)
22	BRCA2	Somatic	Homozygous deletion	Rearrangement	Stand Up 2 Cancer (MI-OncoSeq)
23	BRCA2	Somatic	Homozygous deletion	Rearrangement	UW-Oncoplex