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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/TranscriptGenomic alteration (hg19)Protein alterationCOSMIC or other IDTAF pre-chemoDepthTAF after cycle 3Depth
APC NM_001127511.2chr5 g.112173590C > Tp.(Gln749*)COSM 416647349%61716%7055
TP53 NM_000546.5chr17 g.7577094G > Ap.(Arg282Trp)COSM 163670239%43695%4875
KRAS NM_033360.2chr12 g.25398284C > Tp.(Gly12Asp)COSM52132%39104%5003
THSD7B NM_001080427.1chr2 g.137988706G > Ap.(Glu575Lys)rs74648713021%51013%5467
FBXW7 NM_001013415.1amplification (CNV)ca. 25%1ca. 5000ca. 43%1ca. 7000
  1. 1allele frequency of germline polymorphims on a chromosome 4 segment containing FBXW7