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Table. 2.

Table. 2.

Samples used for data analysis, cfDNA pathogenic variants identified by NGS, and allele frequencies

Case number cfDNA (ng/mL plasma) Library concentration (pM) Median read coverage TP53 variant Allele frequency (%) Read coverage Molecular coverage CTNNB1 variant Allele frequency (%) Read coverage Molecular coverage
1 8.2 4,230 81,672 c.80C > T, p.P27L 0.11 15,872 2,711 ND - - -
c.182delA, p.D61fs 0.09 24,988 2,317 - - -
2 1.22 4,170 55,449 c.556G > A, p.D186N 0.12 25,544 2,476 c.36G > T, p.M12I 0.07 45,960 4,456
3 1.89 4,880 69,885 c.733G > A, p.G245S 0.12 75,430 8,805 ND - - -
4 5.38 12,900 44,765 ND - - - ND - - -
5 0.8 3,290 53,783 ND - - - ND - - -
6 3.76 10,000 57,133 c.755G > A, p.D259N 0.06 26,406 4,634 ND - - -
7 2.34 6,150 61,343 c.481G > A, p.A161T 0.14 47,065 6,345 ND - - -
8 4.42 5,000 78,998 ND - - - ND - - -
9 7.98 5,860 64,088 ND - - - ND - - -
10 8.08 6,300 73,923 c.592G > T, p.E198* 1.86 69,716 9,088 c.98C > A, p.S33Y 0.77 49,020 7,568
- - - - c.101G > T, p.G34Y 0.96 49,026 7,577
- - - - c.1161T > A, p.N387K 0.45 73,925 9,633
11 7.14 4,070 65,632 c.673-2A > G, p.? 6.99 33,589 5,136 ND - - -
c.695A > G, p.Y220C 0.24 60,416 8,251 - - -
c.920-1G > A, p.? 0.19 31,154 4,692 - - -
12 1.46 2,050 61,806 ND - - - ND - - -
13 15.3 5,250 62,876 ND - - - c.1286G > A, p.C429Y 0.05 48,146 7,369
14 2.26 4,830 64,926 ND - - - ND - - -
15 7.98 5,400 57,979 ND - - - c.1624C > T, p.R542C 0.06 58,712 8,223
16 9.58 2,730 74,144 c.808T > A, p.F270I 4.15 23,459 2,433 c.523G > A, p.V 175I 0.06 67,177 6,604
c.821T > G, p.V274G 0.08 63,198 7,502 - - - -
17 3.18 5,650 63,538 c.200C > T, p.P67L 0.07 55,587 5,770 c.134C > T, p.S45F 0.07 55,644 7,624
c.733G > T, p.G245C 4.20 58,779 8,350 - - - -
18 5.7 14,500 53,299 c.833C > G, p.P278R 0.84 36,285 6,086 ND - - -
19 1.28 2,170 49,597 c.711G > A, p.M237I 6.61 55,812 3,102 c.1105C > T, p.H369Y 0.13 45,971 2,400
20 2.06 2,220 59 ND - - - ND - - -

The TERT promoter variant was not detected in any of the 20 patients, despite a median coverage of 14,519 (range: 8,675–28,661).

Abbreviations: cfDNA, cell-free DNA; ND, not detected; NGS, next-generation sequencing.

Ann Lab Med 2021;41:198~206 https://doi.org/10.3343/alm.2021.41.2.198

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