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. Author manuscript; available in PMC: 2020 Oct 1.
Published in final edited form as: Melanoma Res. 2019 Oct;29(5):483–490. doi: 10.1097/CMR.0000000000000613

Table 2: Rare BRCA2 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*
BRCA2: Cutaneous Melanoma Family
Aus11 p.Y42C 13:32893271 rs4987046 0.00169 4 / 6 0, 0, 2 (het; het)
Aus12 p.F81I 13:32893387 rs80358507 0.0000188 1 / 2 0, 0, 1 (het)
Aus6 p.S384F 13:32906766 rs41293475 0.00068 2 / 4 0, 0, 0
Den3 p.S489C 13:32907081 rs587782535 0.0000517 2 / 2 0, 0, 0
Aus13 p.D935H 13:32911295 rs28897716 0.00005 1 / 9 0, 0, 2 (WT; WT)
Aus14a p.D935N 13:32911295 rs28897716 0.00005 2 / 3 0, 0, 1 (het)
Aus15 p.E1382 del 13:32912638 rs80359432 0.0000712 1 / 1 0, 0, 0
Aus16 p.D1420Y 13:32912750 rs28897727 0.00671 1 / 6 0, 0, 2 (WT; WT)
Swe2 p.D1420Y 13:32912750 rs28897727 0.00671 1 / 3 0, 0, 0
Swe2 p.I1705V 13:32913605 rs80358737 0.0000517 1 / 3 0, 0, 0
Aus17 p.L1908P 13:32914215 rs80358797 0.0000065 1 / 1 1 (het), 0, 0
Aus18 p.A2671S 13:32937350 rs786201976 0 3 / 4 0, 0, 0
Aus19 p.A2717S 13:32937488 rs28897747 0.00116 1 / 1 0, 0, 0
Aus20 p.V2728I 13:32937521 rs28897749 0.00203 1 / 3 1, 0, 0
Aus21 p.V2728I 13:32937521 rs28897749 0.00203 2 / 7 1 (bilat, WT), 0, 0
Aus22 p.K2950N 13:32953549 rs28897754 0.00068 1 / 1 0, 0, 0
Aus6 p.A2951T 13:32953550 rs11571769 0.00782 2 / 4 0, 0, 0
Aus4 p.A2951T 13:32953550 rs11571769 0.00782 3 / 3 0, 0, 0
Aus23 p.A2951T 13:32953550 rs11571769 0.00782 1 / 5 2 (bilat, WT; WT), 0, 0
Aus24 p.A2951T 13:32953550 rs11571769 0.00782 2 / 2 1 (het), 0, 0
Aus25 p.T3013I 13:32953971 rs28897755 0.00023 3 / 5 0, 0, 3 (het; het; WT)
Aus26 p.K3326X 13:32972626 rs11571833 0.00701 2 / 5 0, 0, 0
Aus21 p.K3326X 13:32972626 rs11571833 0.00701 1 / 4 1 (bilat, WT), 0, 0
BRCA2: Cutaneous and Uveal Melanoma Family
Aus27 p.A75P 13:32893369 rs28897701 0.00016 3 / 3 0, 0, 0
Aus28 p.S384F 13:32906766 rs41293475 0.00068 1 / 3 1 (WT), 0, 0
Aus29 p.I505T 13:32907129 rs28897708 0.00072 1 / 7 0, 0, 1 (WT)
Aus30 p.R2034C 13:32914592 rs1799954 0.00323 1 / 2 0, 0, 0
Aus14b p.E2856A 13:32945172 rs11571747 0.00088 3 / 4 0, 0, 1 (het)
Aus27 p.K3326X 13:32972626 rs11571833 0.00701 1 / 3 0, 0, 0
BRCA2: Uveal Melanoma Family
Aus31 p.T598A 13:32907407 rs28897710 0.00227 1 / 1 0, 0, 0
Aus32 p.S617P 13:32907464 rs587782871 0.0000065 1 / 1 0, 0, 0
Aus33 p.D1420Y 13:32912750 rs28897727 0.00671 1 / 1 0, 0, 0
Swe3 p.S2247G 13:32915231 rs80358896 0.0000194 1 / 2 0, 0, 0
Den2 p.E2856A 13:32945172 rs11571747 0.00088 2 / 2 0, 0, 0
*

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