BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report
Abstract
:1. Introduction
2. Material and Methods
3. Results
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient | Age | Neoplastic Cells (%) | DNA Concentration (ng/µL) | Reads | Mapped Reads | Percent Read on Target (%) | Average Reads per Amplicon | Uniformity of Amplicon Coverage (%) | Mean Read Length (bp) | Molecular Result | Gene |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 74 | 70.00 | 19.90 | 1,103,756.00 | 1,100,608.00 | 98.15 | 3997.00 | 99.63 | 105.00 | WT | |
2 | 55 | 70.00 | 60.00 | 447,320.00 | 445,834.00 | 99.87 | 1615.00 | 98.90 | 104.00 | WT | |
3 | 51 | 60.00 | 41.00 | 990,443.00 | 987,075.00 | 99.87 | 2578.00 | 99.27 | 108.00 | WT | |
4 | 60 | 70.00 | 5.79 | 999,781.00 | 996,779.00 | 99.08 | 3617.00 | 98.53 | 104.00 | WT | |
5 | 42 | 70.00 | 60.00 | 1,225,736.00 | 1,221,759.00 | 99.04 | 4433.00 | 99.63 | 105.00 | p.R1495M | BRCA1 |
6 | 66 | 70.00 | 2.41 | 940,118.00 | 937,071.00 | 98.71 | 3388.00 | 97.70 | 101.00 | p.Q534X | BRCA1 |
7 | 69 | 70.00 | 25.40 | 1,134,001.00 | 1,129,619.00 | 98.79 | 4088.00 | 98.27 | 104.00 | WT | |
8 | 91 | 80.00 | 60.00 | 1,107,249.00 | 1,105,435.00 | 99.09 | 4012.00 | 98.90 | 105.00 | WT | |
9 | 72 | 70.00 | 60.00 | 978,740.00 | 977,513.00 | 98.93 | 3542.00 | 96.55 | 104.00 | p.K830PfsTer18 | BRCA1 |
10 | 66 | 70.00 | 60.00 | 1,015,943.00 | 1,014,574.00 | 99.33 | 3691.00 | 99.27 | 107.00 | WT | |
11 | 53 | 70.00 | 38.90 | 529,337.00 | 528,001.00 | 98.76 | 1910.00 | 99.63 | 106.00 | WT | |
12 | 71 | 50.00 | 25.30 | 1,111,471.00 | 1,109,964.00 | 99.28 | 4036.00 | 99.27 | 107.00 | WT | |
13 | 63 | 50.00 | 6.19 | 1,091,731.00 | 1,090,470.00 | 99.32 | 3967.00 | 98.53 | 106.00 | WT | |
14 | 61 | 70.00 | 60.00 | 1,120,367.00 | 1,118,600.00 | 99.15 | 4063.00 | 98.90 | 112.00 | WT | |
15 | 61 | 60.00 | 53.00 | 1,140,727.00 | 1,139,018.00 | 99.06 | 4133.00 | 98.99 | 110.00 | WT | |
16 | 25 | 50.00 | 60.00 | 1,052,429.00 | 1,051,081.00 | 99.06 | 3814.00 | 98.90 | 109.00 | WT | |
17 | 64 | 60.00 | 17.30 | 538,487.00 | 581,558.00 | 99.05 | 2110.00 | 99.63 | 109.00 | WT | |
18 | 68 | 80.00 | 60.00 | 574,298.00 | 572,675.00 | 98.75 | 2065.00 | 99.63 | 111.00 | WT | |
19 | 52 | 30.00 | 6.38 | 626,317.00 | 624,168.00 | 98.66 | 2256.00 | 99.63 | 115.00 | WT | |
20 | 69 | 70.00 | 60.00 | 667,821.00 | 665,818.00 | 98.91 | 2410.00 | 100.00 | 112.00 | WT | |
21 | 58 | 70.00 | 11.20 | 585,530.00 | 584,005.00 | 98.92 | 2116.00 | 99.63 | 112.00 | p.Q 1756PfsTer74 | BRCA1 |
22 | 59 | 80.00 | 60.00 | 516,539.00 | 514,737.00 | 98.62 | 1861.00 | 100.00 | 115.00 | WT | |
23 | 76 | 60.00 | 43.80 | 175,439.00 | 175,084.00 | 97.54 | 692.20 | 100.00 | 102.00 | WT | |
24 | 76 | 70.00 | 57.00 | 195,477.00 | 19,501.00 | 98.68 | 704.90 | 100.00 | 102.00 | WT | |
25 | 47 | 70.00 | 60.00 | 233,219.00 | 232,620.00 | 98.90 | 841.10 | 93.84 | 106.00 | WT | |
26 | 69 | 90.00 | 60.00 | 222,662.00 | 222,066.00 | 98.90 | 804.40 | 100.00 | 107.00 | p.IVS2 + 1G > A | BRCA2 |
27 | 48 | 70.00 | 60.00 | 230,212.00 | 229,629.00 | 100.00 | 832.50 | 98.63 | 104.00 | WT | |
28 | 52 | 70.00 | 60.00 | 215,102.00 | 214,804.00 | 99.00 | 778.90 | 100.00 | 105.00 | WT | |
29 | 44 | 50.00 | 60.00 | 218,442.00 | 217,974.00 | 99.10 | 791.20 | 100.00 | 107.00 | WT | |
30 | 57 | 60.00 | 60.00 | 748,780.00 | 746,568.00 | 98.08 | 2682.00 | 100.00 | 106.00 | WT | |
31 | 45 | 50.00 | 32.20 | 633,164.00 | 631,252.00 | 98.12 | 2269.00 | 98.90 | 103.00 | p.N319KfsTer8) | BRCA2 |
32 | 73 | 80.00 | 60.00 | 754,043.00 | 702,880.00 | 98.75 | 2542.00 | 100.00 | 105.00 | WT | |
33 | 63 | 60.00 | 60.00 | 808,451.00 | 806,608.00 | 98.57 | 2913.00 | 100.00 | 107.00 | WT | |
34 | 67 | 70.00 | 33.70 | 482,605.00 | 481,960.00 | 97.97 | 1727.00 | 96.30 | 103.00 | WT | |
35 | 39 | 80.00 | 51.00 | 932,611.00 | 931,119.00 | 97.67 | 3331.00 | 99.27 | 102.00 | WT | |
36 | 51 | 50.00 | 53.00 | 1,119,066.00 | 1,116,901.00 | 98.26 | 4020.00 | 100.00 | 105.00 | WT | |
37 | 66 | 70.00 | 7.15 | 1,020,993.00 | 1,019,060.00 | 98.89 | 3691.00 | 100.00 | 102.00 | p.L1072Ter) | BRCA2 |
38 | 56 | 60.00 | 60.00 | 992,136.00 | 990,635.00 | 98.49 | 3574.00 | 100.00 | 102.00 | WT | |
39 | 57 | 70.00 | 60.00 | 1,952,836.00 | 1,949,593.00 | 98.64 | 7045.00 | 99.63 | 106.00 | p.T1378Ter | BRCA2 |
40 | 77 | 70.00 | 60.00 | 1,584,808.00 | 1,582,139.00 | 98.47 | 5707.00 | 99.27 | 103.00 | WT | |
41 | 70 | 20.00 | 13.80 | 689,251.00 | 687,985.00 | 95.00 | 3914.00 | 94.61 | 104.00 | WT | |
42 | 60 | 50.00 | 60.00 | 668,595.00 | 667,463.00 | 94.00 | 3757.00 | 94.61 | 105.00 | WT | |
43 | 40 | 50.00 | 60.00 | 675,510.00 | 674,213.00 | 95.64 | 3861.00 | 95.21 | 104.00 | WT | |
44 | 70 | 50.00 | 22.20 | 505.00 | 505.00 | 97.03 | 2.90 | 91.57 | 105.00 | RIP | |
45 | 64 | 50.00 | 10.70 | 683,922.00 | 682,904.00 | 93.36 | 3815.00 | 95.21 | 102.00 | WT | |
46 | 52 | 10.00 | 51.00 | 619,053.00 | 617,877.00 | 94.31 | 3489.00 | 94.01 | 103.00 | WT | |
47 | 81 | 60.00 | 30.30 | 472,447.00 | 470,375.00 | 94.42 | 2654.00 | 93.41 | 109.00 | WT | |
48 | 67 | 70.00 | 60.00 | 204,918.00 | 204,318.00 | 93.72 | 1147.00 | 94.01 | 111.00 | WT | |
49 | 33 | 60.00 | 60.00 | 574,974.00 | 572,585.00 | 93.02 | 3189.00 | 95.21 | 109.00 | p.Q1811Ter | BRCA1 |
50 | 72 | 70.00 | 60.00 | 13,533,583.00 | 13,391,178.00 | 94.89 | 76,092.00 | 95.81 | 105.00 | WT | |
51 | 74 | 40.00 | 5.40 | 9,481,551.00 | 9,408,339.00 | 94.13 | 53,031.00 | 95.21 | 104.00 | WT | |
52 | 49 | 50.00 | 19.70 | 12,876,898.00 | 12,766,795.00 | 94.17 | 71,989.00 | 96.41 | 103.00 | WT | |
53 | 48 | 60.00 | 60.00 | 13,327,661.00 | 13,176,126.00 | 94.45 | 74,523.00 | 96.41 | 106.00 | WT | |
54 | 73 | 60.00 | 60.00 | 1521.00 | 1503.00 | 93.35 | 8.40 | 93.53 | 103.00 | WT | |
55 | 53 | 60.00 | 18.80 | 592,625.00 | 590,434.00 | 94.04 | 3325.00 | 96.41 | 122.00 | p.Q2157IfsTer18 | BRCA2 |
56 | 76 | 20.00 | 0.60 | 459,548.00 | 458,573.00 | 96.02 | 2637.00 | 96.41 | 106.00 | WT | |
57 | 68 | 80.00 | 60.00 | 442,179.00 | 440,884.00 | 94.76 | 2502.00 | 95.81 | 108.00 | WT | |
58 | 62 | 50.00 | 8.50 | 382,324.00 | 381,454.00 | 96.15 | 2196.00 | 95.81 | 106.00 | WT | |
59 | 54 | 40.00 | 11.60 | 433,234.00 | 431,971.00 | 95.86 | 2480.00 | 95.25 | 111.00 | p.C61G | BRCA1 |
60 | 66 | 70.00 | 47.00 | 407,607.00 | 406,640.00 | 95.03 | 2314.00 | 95.03 | 106.00 | WT | |
61 | 63 | 20.00 | 3.40 | 276,753.00 | 275,901.00 | 96.05 | 1587.00 | 95.21 | 111.00 | WT | |
62 | 62 | 70.00 | 37.80 | 280,573.00 | 279,771.00 | 96.01 | 1609.00 | 95.21 | 104.00 | WT | |
63 | 64 | 70.00 | 16.00 | 227,648.00 | 228,989.00 | 95.27 | 1295.00 | 94.01 | 107.00 | WT | |
64 | 74 | 40.00 | 4.14 | 275,446.00 | 274,321.00 | 95.03 | 1561.00 | 94.01 | 111.00 | WT | |
65 | 61 | 10.00 | 6.90 | 248,198.00 | 247,411.00 | 95.53 | 1415.00 | 95.21 | 112.00 | WT |
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Pepe, F.; Pisapia, P.; Russo, G.; Nacchio, M.; Pallante, P.; Vigliar, E.; De Angelis, C.; Insabato, L.; Bellevicine, C.; De Placido, S.; et al. BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report. Genes 2021, 12, 1917. https://doi.org/10.3390/genes12121917
Pepe F, Pisapia P, Russo G, Nacchio M, Pallante P, Vigliar E, De Angelis C, Insabato L, Bellevicine C, De Placido S, et al. BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report. Genes. 2021; 12(12):1917. https://doi.org/10.3390/genes12121917
Chicago/Turabian StylePepe, Francesco, Pasquale Pisapia, Gianluca Russo, Mariantonia Nacchio, Pierlorenzo Pallante, Elena Vigliar, Carmine De Angelis, Luigi Insabato, Claudio Bellevicine, Sabino De Placido, and et al. 2021. "BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report" Genes 12, no. 12: 1917. https://doi.org/10.3390/genes12121917