Table 4 Summary of patient and mutational status and OR for patients with likely pathogenic germline mutations in this study
From: The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk
Number | Age | Sex | Cancer type | Race | Gene | Protein change | Annotation | Allele Freqency in population | OR | 95% CI | Adjusted P |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 63 | MALE | BLCA | WHITE | ATM | n.93-2A > T | Likely pathogenic | 0.00000399(1/250850) | 610.34 | 38.11 to 9774.77 | 1.0243E−17 |
2 | 46 | MALE | BLCA | WHITE | ATR | p.T1640RYX | Likely pathogenic | 0.00000398(1/251370) | 611.60 | 38.19 to 9795.04 | 9.9595E−18 |
3 | 66 | MALE | BLCA | WHITE | BRIP1 | p.K703NX | Likely pathogenic | 0.00002125(6/282326) | 114.48 | 13.75 to 953.08 | 1.5426E−06 |
4 | 60 | MALE | BLCA | WHITE | CDKN2A | p.E74GX | Likely pathogenic | 0.00001725(4/231826) | 141.01 | 15.73 to 1264.36 | 2.6366E−07 |
5 | 48 | MALE | BLCA | WHITE | CHEK2 | c.444 + 1 N > A | Likely pathogenic | 0.00000398(1/251274) | 611.37 | 38.17 to 9791.29 | 9.9595E−18 |
6 | 36 | MALE | BLCA | WHITE | COL7A1 | p.Q783* | Likely pathogenic | NA | NA | NA | NA |
7 | 53 | MALE | BLCA | WHITE | DDB2 | p.Q87* | Likely pathogenic | 0.00000398(1/251216) | 611.23 | 38.17 to 9789.03 | 9.9595E−18 |
8 | 49 | MALE | BLCA | BLACK OR AFRICAN AMERICAN | EXT2 | p.R498* | Likely pathogenic | 0.00001415(4/282742) | 171.98 | 19.18 to 1542.05 | 1.1832E−08 |
9 | 63 | FEMALE | BLCA | WHITE | PRDM9 | p.R77* | Likely pathogenic | 0.00004407(11/249584) | 55.20 | 7.11 to 428.57 | 0.00069828 |
10 | 55 | MALE | BLCA | WHITE | RAD51C | p.T60X | Likely pathogenic | 0.00001193(3/251400) | 203.89 | 21.16 to 1964.25 | 1.7599E−09 |
11 | 31 | MALE | BLCA | WHITE | RAD51C | p.Y75* | Likely pathogenic | 0.00001193(3/251456) | 203.94 | 21.17 to 1964.68 | 1.7599E−09 |
12 | 65 | FEMALE | BLCA | ASIAN | RAD51D | p.E35* | Likely pathogenic | 0.00003579(9/251448) | 136.28 | 29.35 to 632.69 | 1.4611E−27 |
13 | 37 | MALE | BLCA | ASIAN | RHBDF2 | n.836-2A > T | Likely pathogenic | 0.00001218(3/246374) | 199.81 | 20.74 to 1924.98 | 2.5107E−09 |
14 | 50 | MALE | KICH | WHITE | MSH6 | p.E1359ELX | Likely pathogenic | NA | NA | NA | NA |
15 | 55 | MALE | KICH | WHITE | RECQL | p.556-? | Likely pathogenic | 0.00027940(78/279214) | 111.83 | 26.90 to 464.90 | 3.0482E−26 |
16 | 36 | MALE | KIRC | WHITE | BAP1 | c.375 + 1 N > A | Likely pathogenic | 0.00000800(1/119830) | 310.44 | 19.38 to 4972.32 | 1.2813E−09 |
17 | 36 | FEMALE | KIRC | BLACK OR AFRICAN AMERICAN | BRIP1 | p.M1244X | Likely pathogenic | 0.00002484(7/281774) | 104.28 | 12.80 to 849.62 | 3.7418E−06 |
18 | 35 | FEMALE | KIRC | WHITE | CDKN1B | p.M1I | Likely pathogenic | 0.00000806(2/248218) | 321.52 | 29.09 to 3553.35 | 8.272E−13 |
19 | 61 | MALE | KIRC | WHITE | COL7A1 | p.L2219LX | Likely pathogenic | 0.00000398(1/250976) | 650.19 | 40.59 to 10,414.22 | 1.0707E−18 |
20 | 58 | FEMALE | KIRC | WHITE | FANCM | p.-1740-1741X | Likely pathogenic | 0.00000708(2/282464) | 365.88 | 33.11 to 4043.60 | 2.1299E−14 |
21 | 54 | MALE | KIRC | WHITE | POLE | p.S1827* | Likely pathogenic | NA | NA | NA | NA |
22 | 54 | FEMALE | KIRC | BLACK OR AFRICAN AMERICAN | POLE | p.W1624* | Likely pathogenic | 0.00003186(1/31386) | 81.31 | 5.08 to 1302.35 | 0.0023152 |
23 | 12 | FEMALE | KIRC | WHITE | VHL | p.E134* | Likely pathogenic | NA | NA | NA | NA |
24 | 30 | MALE | KIRP | BLACK OR AFRICAN AMERICAN | BRCA1 | p.-1237-1238X | Likely pathogenic | 0.00000398(1/251278) | 872.49 | 54.44 to 13,983.27 | 1.425E−24 |
25 | 39 | MALE | KIRP | WHITE | EXT2 | p.Y641* | Likely pathogenic | 0.00003183(1/31412) | 109.07 | 6.81 to 1748.02 | 0.00037813 |
26 | 33 | MALE | KIRP | BLACK OR AFRICAN AMERICAN | FANCM | p.Q1844X | Likely pathogenic | 0.00001193(3/251422) | 290.99 | 30.18 to 2805.86 | 5.5171E−13 |
27 | 38 | MALE | KIRP | WHITE | FANCM | p.Q600* | Likely pathogenic | NA | NA | NA | NA |
28 | 18 | FEMALE | KIRP | BLACK OR AFRICAN AMERICAN | FH | c.556-2A > T | Likely pathogenic | 0.00000400(1/249830) | 867.46 | 54.13 to 13,902.69 | 1.5558E−24 |
29 | 44 | MALE | KIRP | WHITE | FH | p.M380NX | Likely pathogenic | 0.00000398(1/251412) | 872.95 | 54.47 to 13,990.73 | 1.425E−24 |
30 | 25 | MALE | KIRP | Not avaiable | FH | p.NE361-362X | Likely pathogenic | 0.00000398(1/251108) | 871.90 | 54.40 to 13,973.81 | 1.425E−24 |
31 | 54 | MALE | KIRP | WHITE | GJB2 | p.Y65* | Likely pathogenic | NA | NA | NA | NA |
32 | 53 | MALE | KIRP | WHITE | MAX | p.Y71* | Likely pathogenic | 0.00000398(1/251312) | 872.61 | 54.45 to 13,985.17 | 1.425E−24 |
33 | 42 | FEMALE | KIRP | WHITE | MSH2 | p.Q915* | Likely pathogenic | 0.00000844(2/236964) | 411.39 | 37.20 to 4549.75 | 5.3559E−16 |
34 | 21 | MALE | KIRP | WHITE | PMS2 | p.-371-372X | Likely pathogenic | NA | NA | NA | NA |
35 | 28 | FEMALE | KIRP | WHITE | POT1 | p.R363* | Likely pathogenic | 0.00002500(7/280046) | 278.78 | 57.67 to 1347.75 | 4.1526E−53 |
36 | 47 | MALE | KIRP | BLACK OR AFRICAN AMERICAN | PRKAR1A | p.Y138* | Likely pathogenic | 0.00000398(1/251326) | 872.66 | 54.45 to 13,985.94 | 1.425E−24 |
37 | 52 | MALE | KIRP | Not avaiable | RECQL | p.556-? | Likely pathogenic | 0.00027940(78/279214) | 24.94 | 6.10 to 101.98 | 1.0827E−06 |
38 | 35 | MALE | PRAD | Not Avaiable | ATM | p.E1267X | Likely pathogenic | NA | NA | NA | NA |
39 | 48 | MALE | PRAD | WHITE | ATM | p.L263X | Likely pathogenic | NA | NA | NA | NA |
40 | 38 | MALE | PRAD | BLACK OR AFRICAN AMERICAN | ATM | p.LT2332-2333X | Likely pathogenic | NA | NA | NA | NA |
41 | 52 | MALE | PRAD | Not avaiable | BRCA2 | p.A1564AX | Likely pathogenic | NA | NA | NA | NA |
42 | 46 | MALE | PRAD | WHITE | EPCAM | c.426-1 N > C | Likely pathogenic | NA | NA | NA | NA |
43 | 31 | MALE | PRAD | WHITE | MSH2 | p.F136X | Likely pathogenic | 0.00000398(1/251332) | 505.70 | 31.58 to 8096.53 | 6.9724E−15 |
44 | 50 | MALE | PRAD | Not avaiable | MTAP | p.F78X | Likely pathogenic | 0.00000442(1/226276) | 455.28 | 28.44 to 7289.37 | 1.5451E−13 |
45 | 39 | MALE | PRAD | Not avaiable | PMS2 | p.669-? | Likely pathogenic | NA | NA | NA | NA |
46 | 36 | MALE | PRAD | Not avaiable | PMS2 | p.R563* | Likely pathogenic | 0.00000796(2/251330) | 252.85 | 22.89 to 2793.05 | 2.4731E−10 |
47 | 40 | MALE | PRAD | Not avaiable | POT1 | p.R363* | Likely pathogenic | 0.00002500(7/280046) | 161.31 | 33.43 to 778.45 | 5.4259E−31 |
48 | 30 | MALE | PRAD | Not avaiable | RAD51D | p.E35* | Likely pathogenic | 0.00003579(9/251448) | 112.65 | 24.28 to 522.71 | 3.8539E−23 |
49 | 44 | MALE | PRAD | WHITE | RECQL | p.KN487-488X | Likely pathogenic | NA | NA | NA | NA |
50 | 34 | MALE | PRAD | WHITE | TSC1 | p.Q550* | Likely pathogenic | 0.00002123(6/282572) | 94.76 | 11.39 to 788.54 | 1.2966E−05 |
51 | 41 | MALE | PRAD | Not avaiable | TSC2 | p.M1V | Likely pathogenic | 0.00005311(15/282430) | 37.88 | 4.99 to 287.35 | 0.00510767 |
52 | 36 | MALE | PRAD | Not avaiable | UROD | p.R365* | Likely pathogenic | 0.00001591(4/251480) | 126.50 | 14.11 to 1133.80 | 1.0804E−06 |
|  |  |  |  |  |  |  | Overall | 0.00109559(281/256482) | 33.18 | 24.90 to 44.20 | 2.2E−16 |