Table 1 Somatic mutations identified in ctDNA using the ONCOMINE and ACCEL NGS panels and validated by ddPCR.

From: Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies

Patient ID

Gene

Mutation

Chromosomal position

Oncomine panel

Accel comprehensive TP53 panel

ddPCR validation

OC1

TP53

p.R282G

17:7,577,094

0.54%

0.3%

0.7%

p.G266R

17:7,577,142

0.03%a

–

0.02%

OC2

TP53

p.R273H

17:7,577,120

0.04%

–

–

OC3

TP53

p.I195T

17:7,578,265

0.03%a

–

0.03%

TP53

p.N13N

17:7,579,757

b

0.2%

–

OC4

TP53

p.R282W

17:7,577,094

0.10%

–

0.7%

p.R273L

17:7,577,120

0.10%

–

–

p.R248Q

17:7,577,538

0.86%

0.6%

0.50%

p.C238Y

17:7,577,568

0.38%

–

0.10%

p.Y220C

17:7,578,190

0.28%

–

0.25%

p.R280S

17:7,577,100

2%

3%

3%

OC5

TP53

p.T253P

17:7,577,524

–

0.3%

–

p.R282W

17:7,577,094

0.04%

–

0.04%

p.I195T

17:7,578,265

0.86%

0.7%

0.83%

OC6

 

p.G266R

17:7,577,142

0.04%

–

0.11%

OC7

TP53

p.S378fs

17:7,572,976

0.08%

–

c

OC8

TP53

p.R196Q

17:7,578,262

0.29%

–

c

p.S185G

17:7,578,377

–

0.2%

–

p.D184H

17:7,578,380

–

0.2%

–

OC9

TP53

p.Y234C

17:7,577,580

0.04%

–

–

OC10

TP53

p.R273C

17:7,577,121

0.25%

0.27%

0.58%

  1. Bold denotes concordant variants identified using the Accel and Oncomine in cfDNA that were confirmed by ddPCR. Italics denotes variants found in Oncomine or Accell that are confirmed via orthogonal validation using ddPCR.
  2. aBelow threshold.
  3. bNot covered.
  4. cNot tested.
  5. –, not detected.
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