Table 1: Rare BRCA1 mutations identified in cutaneous and/or uveal family members.

Variants indicated in bold font are present in all CM affected family members available for testing.

Family ID	Amino acid change	Genomic position	dbSNPID	Population frequency	Number affected with variant / Total affected tested	Number of breast cancer, ovarian and prostate cancer patients genotyped in family*
BRCA1: Cutaneous Melanoma Family
Aus1	p.T1726S	17:41203095	rs80357324	0.0000065	1 / 3	0, 0, 0
Aus2	p.S1465I	17:41226488	rs1800744	0.00215	4 / 5	1 (het), 0, 1 (WT)
Aus3	p.S1465I	17:41226488	rs1800744	0.00215	1 / 2	1 (bilat, hom), 0, 0
Den1	p.S1465I	17:41226488	rs1800744	0.00215	3 / 3	0, 0, 0
Aus4	p.R1300G	17:41243509	rs28897689	0.00398	2 / 3	0, 0, 0
Aus5	p.R1300G	17:41243509	rs28897689	0.00398	2 / 2	0, 0, 0
Aus6	p.N1189K	17:41243840	rs28897687	0.00024	1 / 4	0, 0, 0
Aus7	p.N1189K	17:41243840	rs28897687	0.00024	3 / 4	0, 0, 2 (het; WT)
Aus8	Frameshift†	17:41244865	n/a	0	5 / 6	1 (het), 0, 0
Aus9	p.T779K	17:41245071	rs28897683	0.00018	3 / 7	1 (WT), 0, 0
Swe1	p.Q516X	17:41245861	rs80356898	0.000038	2 / 2	0, 0, 0
BRCA1: Cutaneous and Uveal Melanoma Family
Aus10	p.D167G	17:41247892	rs55680408	0.00002	2 / 3	1 (het), 0, 0
Aus10	Splice†	17:41247941	rs80358033	0.00001	2 / 3	1 (het), 0, 0
BRCA1: Uveal Melanoma Family
Den2	p.E1172D	17:41243891	rs80356876	0.00002	1 / 2	0, 0, 0

^*Column order: breast, ovarian, prostate cancer. WT=wild-type; het=heterozygous for variant; hom=homozygous for variant; bilat=bilateral cancer

^†The frameshift variant is: c.2450-2451 TT deletion. The splice variant is: c.594-2A>C