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Table 1 Plasma cell free DNA tumour molecular genetic results in HGVS nomenclature, with tumour allele frequency (TAF) and sequence depth at mutation

From: Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy

Gene/Transcript

Genomic alteration (hg19)

Protein alteration

COSMIC or other ID

TAF pre-chemo

Depth

TAF after cycle 3

Depth

APC NM_001127511.2

chr5 g.112173590C > T

p.(Gln749*)

COSM 4166473

49%

6171

6%

7055

TP53 NM_000546.5

chr17 g.7577094G > A

p.(Arg282Trp)

COSM 1636702

39%

4369

5%

4875

KRAS NM_033360.2

chr12 g.25398284C > T

p.(Gly12Asp)

COSM521

32%

3910

4%

5003

THSD7B NM_001080427.1

chr2 g.137988706G > A

p.(Glu575Lys)

rs746487130

21%

5101

3%

5467

FBXW7 NM_001013415.1

amplification (CNV)

ca. 25%1

ca. 5000

ca. 43%1

ca. 7000

  1. 1allele frequency of germline polymorphims on a chromosome 4 segment containing FBXW7