Table 2.
Comprehensive characterization of PGV-A carriers.
| ID | Gene | Variant | Set | Age | Sex | Race | ISS | High risk | FISHa | Prior CA | Fam Hx CA | Rx 1 | ASCT first-line |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | ATM | c.710delC (p.T237IfsX18) | D | 67 | M | W | 1 | No | None | No | Yes | Trip | Yes |
| 31b | ATM | c.1945G>T (p.E649X) | D | 59 | F | 3 | No | None | No | Trip | Yes | ||
| 896 | ATM | c.5762+1G>T (-) | R | 55 | M | W | Yes | 1q gain, t(4;14) | No | No | Other | Yes | |
| 897 | ATM | c.8266A>T (p.K2756X) | R | 39 | M | H | No | None | No | Yes | Quad | Yes | |
| 915c | ATM | c.2502dupA (p.V835SfsX7) | R | 54 | M | W | No | t(11;14) | No | Yes | Other | Yes | |
| 918 | ATM | c.5712dupA (p.S1905Ifs*25) | R | 72 | F | W | 2 | No | t(11;14) | Yesd | Trip | No | |
| 922 | ATM | c.8122G>A (p.D2708N) | R | 61 | M | A | 3 | No | None | No | Quad | No | |
| 927 | BARD1 | c.463A>T (p.R155*) | R | 70 | M | B | 3 | Yes | 1q gain | No | Yes | No | |
| 2 | BLM | c.1642C>T (p.Q548X) | D | 64 | M | W | 1 | No | None | No | Yes | Doubl | No |
| 898 | BLM | c.3875-2A>G (-) | R | 59 | M | W | 1 | Yes | del17p | No | Yes | Trip | Yes |
| 3 | BRCA1 | c.5177_5180delGAAA (p.R1726KfsX3) | D | 58 | M | W | 2 | No | None | No | Yes | Trip | Yes |
| 899 | BRCA1 | c.1687C>T (p.Q563X) | R | 64 | F | W | No | Yes | Doubl | No | |||
| 900 | BRCA1 | c.5123C>A (p.A1708E) | R | 57 | M | W | 3 | Yes | t(14;16) | No | Yes | Trip | No |
| 901 | BRCA1 | c.671-1G>T (-) | R | 50 | F | A | 1 | No | None | No | Yes | Trip | Yes |
| 902 | BRCA1 | c.68_69delAG (p.E23VfsX17) | R | 53 | F | W | 3 | No | Trip | Yes | |||
| 916b | BRCA1 | c.68_69delAG (p.E23VfsX17) | R | 66 | M | W | 1 | No | None | Yese | Yes | Trip | Yes |
| 917b | BRCA1 | c.68_69delAG (p.E23VfsX17) | R | 53 | M | W | 1 | No | t(11;14) | No | Yes | Other | Yes |
| 926 | BRCA1 | c.302-1G>A (-) | R | 78 | F | B | No | None | Yesd | Yes | Trip | No | |
| 4 | BRCA2 | c.2808_2811delACAA (p.A938PfsX21) | D | 67 | M | O | 1 | No | None | No | Doubl | No | |
| 5 | BRCA2 | c.4936_4939delGAAA (p.E1646QfsX23) | D | 84 | M | W | 3 | No | None | No | Yes | Doubl | No |
| 6 | BRCA2 | c.658_659delGT (p.V220IfsX4) | D | 61 | M | 2 | No | None | No | Trip | Yes | ||
| 7 | BRCA2 | c.6641dupC (p.Y2215LfsX10) | D | 63 | F | 1 | No | None | No | Trip | No | ||
| 903 | BRCA2 | c.3778_3779delTT (p.L1260IfsX4) | R | 47 | F | H | No | Yes | Quad | Yes | |||
| 904 | BRCA2 | c.5946delT (p.S1982RfsX22) | R | 55 | M | W | 1 | Yes | 1q gain | No | Yes | Trip | Yes |
| 905 | BRCA2 | c.7977-1G>C (-) | R | 41 | F | W | 1 | Yes | t(11;14), 1q gain | No | Yes | Other | No |
| 924 | BRCA2 | c.5946delT (p.S1982Rfs*22) | R | 71 | F | W | 2 | Yes | 1q gain, t(14;16) | Yesd | Yes | Trip | No |
| 8 | BRIP1 | c.440delA (p.Y147SfsX10) | D | 67 | F | W | 1 | No | None | No | Yes | Trip | No |
| 906 | BRIP1 | c.1A>G (p.M1?) | R | 43 | F | W | No | None | No | Trip | Yes | ||
| 907 | BRIP1 | c.2392C>T (p.R798X) | R | 53 | M | H | Yes | del17p, 1q gain | No | Yes | Other | Yes | |
| 908 | BRIP1 | c.3390_3393delCTAT (p.Y1131LfsX18) | R | 50 | F | B | 1 | No | None | No | No | Trip | No |
| 909 | BRIP1 | c.751C>T (p.R251C) | R | 48 | M | W | No | t(11;14) | No | No | Quad | Yes | |
| 923 | CDKN2A | c.176T>G (p.V59G) | R | 82 | M | W | Yesf | Yes | Trip | No | |||
| 9 | CHEK2 | c.1100delC (p.T367MfsX15) | D | 66 | F | W | 1 | Yes | t(11;14), del17p | No | Yes | Trip | No |
| 10 | CHEK2 | c.1100delC (p.T367MfsX15) | D | 52 | F | W | 1 | No | t(11;14) | Yesd | Yes | Doubl | No |
| 11 | CHEK2 | c.1100delC (p.T367MfsX15) | D | 51 | F | W | 2 | No | t(11;14) | No | Yes | Trip | Yes |
| 12 | CHEK2 | c.1232G>A (p.W411X) | D | 69 | M | W | 1 | Yes | del17p | No | Yes | Other | No |
| 13 | CHEK2 | c.1368dupA (p.E457RfsX33) | D | 60 | M | W | 3 | No | t(11;14) | No | Yes | Trip | Yes |
| 14 | CHEK2 | c.3G>A (p.M1?) | D | 58 | F | W | 3 | Yes | 1q gain | No | Yes | Trip | Yes |
| 910 | CHEK2 | c.349A>G (p.R117G) | R | 64 | F | H | Yes | 1q gain | Yesd | Yes | Quad | Yes | |
| 920 | CHEK2 | c.1100delC (p.T367Mfs*15) | R | 67 | F | B | No | Yes | Trip | Yes | |||
| 919 | DDX41 | c.388A>T (p.K130*) | R | 53 | M | 2 | No | None | No | Yes | Trip | No | |
| 15 | MLH1 | c.1489dupC (p.R497PfsX6) | D | 68 | M | W | 3 | No | None | Yesg | Trip | No | |
| 16 | MRE11 | c.1714C>T (p.R572X) | D | 83 | M | W | 3 | Yes | 1q gain | No | No | Trip | No |
| 17 | MRE11 | c.1852dupA (p.M618NfsX8) | D | 52 | F | 1 | No | t(11;14) | No | Trip | Yes | ||
| 18 | MSH2 | c.1862G>T (p.R621L) | D | 36 | F | W | 2 | No | None | No | Trip | Yes | |
| 19 | MSH2 | c.1906G>C (p.A636P) | D | 63 | M | W | 1 | Yes | del17p, 1q gain, t(4;14) | No | Yes | Trip | No |
| 911 | MSH6 | c.3439-1G>T (-) | R | 67 | M | W | Yes | 1q gain, t(4;14) | No | Yes | Trip | No | |
| 20 | PALB2 | c.1467_1468insTTAA (p.P490LfsX7) | D | 72 | M | W | 2 | No | t(11;14) | No | Doubl | No | |
| 21 | PALB2 | c.2727_2728delTT (p.T911LfsX16) | D | 40 | M | W | 1 | Yes | 1q gain | No | No | Trip | Yes |
| 32b | PALB2 | c.1142_1143delTT (p.L381QfsX19) | D | 50 | M | W | 2 | No | t(11;14) | No | Other | No | |
| 912 | PALB2 | c.120delA (p.A41LfsX12) | R | 67 | M | W | Yes | 1q gain | No | Yes | Yes | ||
| 22 | PMS2 | c.2444C>T (p.S815L) | D | 60 | F | W | 3 | No | t(11;14) | No | Yes | Trip | Yes |
| 23 | PMS2 | c.631C>T (p.R211X) | D | 56 | M | 2 | No | None | No | Trip | No | ||
| 921 | POT1 | c.809G>A (p.S270N) | R | 41 | F | B | 1 | No | None | No | No | Trip | No |
| 24 | RAD50 | c.2165dupA (p.E723GfsX5) | D | 63 | M | 2 | No | None | No | Trip | Yes | ||
| 25 | RAD50 | c.326_329delCAGA (p.T109NfsX20) | D | 58 | F | O | 3 | No | t(11;14) | No | Yes | Trip | Yes |
| 26 | RAD50 | c.3612_3618+5del (p.Q1205fs) | D | 55 | F | W | 3 | Yes | 1q gain | No | No | Trip | No |
| 27 | RAD50 | c.3G>A (p.M1?) | D | 58 | M | W | 2 | Yes | 1q gain, t(4;14) | No | No | Trip | Yes |
| 913 | RAD50 | c.1958C>A (p.S653X) | R | 57 | F | W | 1 | No | t(11;14) | No | Yes | Doubl | Yes |
| 925 | RAD51C | c.267dupA (p.L90Tfs*3) | R | 46 | F | B | Yes | 1q gain | No | Yes | Doubl | Yes | |
| 914 | RAD51D | c.1A>T (p.M1?) | R | 53 | F | W | 1 | No | None | No | Quad | Yes | |
| 28 | TP53 | c.438_439insT (p.V147CfsX2) | D | 69 | F | W | 2 | No | None | No | Yes | Trip | Yes |
| 29 | TP53 | c.473G>A (p.R158H) | D | 63 | M | W | Yes | t(11;14), 1q gain | Yesf | Yes | Doubl | Yes | |
| 30 | XRCC2 | c.651_652delTG (p.C217X) | D | 68 | M | W | 1 | No | None | No | Yes | Doubl | No |
Genomic information and clinical traits are provided for the 64 PGV-A carriers identified.
“None” indicates none of these abnormalities were detected, whereas a missing value indicates no FISH findings were available for this patient.
Abbreviations: A, Asian; B, Black/African-American; D, Discovery; Doubl, doublet (two-drug combination); F, female, Fam Hx CA, family history of cancer; H, Hispanic/Latino; ISS, International Staging System stage; M, male; Other, other drug combination; Prior CA, personal history of antecedent cancer; Quad, quadruplet (four-drug combination); R, Replication; Rx 1, first-line therapy; Trip, triplet (three-drug combination); W, White/European.
a
Reported FISH findings are: del17p, +1q, t(4;14), t(14;16), t(14;20), t(11;14).
b
Patient is also a PGV-C carrier.
c
Patient is also a PGV-B carrier.
d
Breast.
e
Melanoma.
f
Prostate.
g
Bladder.