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. 2017 Apr 4;8(20):33614–33620. doi: 10.18632/oncotarget.16833

Table 3. Tumor genomic abnormalities as detected by tissue versus ctDNA NGS testing.

Pt DNA repair Cell cycle regulation PI3K Epigenetics Angiogenesis
Tissue ctDNA Tissue ctDNA Tissue ctDNA Tissue ctDNA Tissue ctDNA
1 X X X X X
2 X X X X X X X
3 X X X
4 X X X
5 X X
6 X X X
7 X X X
8 X X X
9 X X X
10 X X
11 X X X
12 X X X X X
13 X X X X
14 X X X
15 X
16 X X
17 X X X X X
18 X X X
19 X X X
TOTAL 12 0 12 7 8 2 10 0 8 4
P VAL 0.0001 0.19 0.06 0.0004 0.30

Legend:

DNA repair includes: BAP1, POLE, FANCD2, EMSY, FANCF, POLD1, BARD1, PMS2, BRCA1, BRCA2, PALB2.

Cell cycle regulation: BTG1, CCND1, CCND2, CCND3, CDKN2A, CDKN2B, CCNE1, TP53.

PI3K: PREX2, RICTOR, PIK3CA, RPTOR, PTEN.

Epigenetics: MLL2, SETD2, DOT1L, CHD2, KDM6A, DNMT2A.

Angiogenesis: VHL, FLT4.

Genes tested by ctDNA are underlined. All genes were tested by tissue NGS.