Table 3.

Frequency of pathogenic variants in breast cancer genes in overall MBC cohort (n = 708)

Gene	No prior BRCA1/2 testing			Prior BRCA1/2 testing			All MBC
	Total pathogenic/likely pathogenic variants	Total testeda	%	Total pathogenic/likely pathogenic variants	Total testeda	%	Total pathogenic/likely pathogenic variants	Total testeda	%
BRCA2	53	480	11.0	2	197	1.0	55	677	8.1
CHEK2 (all)	16	386	4.1	6	195	3.1	22	581	3.8
CHEK2 (excluding I157T)	11	386	2.8	5	195	2.6	16	581	2.8
CHEK2 (I157T only)	5	386	1.3	1	195	0.5	6	581	1.0
ATM b	6	390	1.5	0	196	0.0	6	586	1.0
BRCA1	6	480	1.3	0	197	0.0	6	677	0.9
NF1	2	354	0.6	1	158	0.6	3	512	0.6
PALB2	2	417	0.5	3	204	1.5	5	621	0.8
RAD51D	1	354	0.3	0	158	0.0	1	512	0.2
BRIP1	1	370	0.3	0	194	0.0	1	564	0.2
MRE11A	1	370	0.3	0	194	0.0	1	564	0.2
NBN	1	370	0.3	0	194	0.0	1	564	0.2
BARD1	0	370	0.0	2	194	1.0	2	564	0.4

^aThe total number of men tested varies by gene, as not all men were tested by the same panel of genes

^b ATM biallelic individual was counted only once