38 / 42
Estudios de concordancia entre WES y otros paneles
Comparison
Concordance
Details
Sample #
Tumor types
Empirical?
WES vs smaller panels
WES vs FoundationOne
1
R
FoundationOne 322-gene panel
312
NSCLC
In silico
WES vs FoundationOne CDx™
panel
2
R
FoundationOne CDx™ 324-gene panel
44
NSCLC
R
MSK-IMPACT™ vs WES
3
R
MSK-IMPACT™ 341 (more recently 410) gene
panel
106
Various
R
MDACC vs WES
4
R
MDACC 169-gene panel
529
Lung, melanoma
R
WES vs Illumina 500 panel
5
R
Illumina 500-gene panel
2385
Colon, lung, and melanoma
R
Thermo Fisher Oncomine™ vs
comparator NGS panel
6
R
Thermo Fisher Oncomine™ Mutation Load
Research Assay (TML) 409 gene panel
30
Colon, renal, gastric, endometrial,
and lung
R
WES vs WES
WES vs WES from different
vendors
7
X
Concordance of mutations detected from the 2
replicates varied from 3% to 89% for different
vendors
3
Colorectal (1), lung(1),
cell line (1)
R
Tissue vs blood-based assays
G360 vs FoundationOne
8–10
X
G360 73-gene panel; FoundationOne
322-gene panel
41, 97, 22
Various (NSCLC, breast, other
solid tumors, urinary tract)
R
New Oncology: NEOliquid vs
tissue-based routine testing
11
R
NEOliquid 39 gene panel vs routine testing
(commercially available PCR-based kits and
laboratory-developed tests)
82
Nonsquamous NSCLC
R
38
NGS = next-generation sequencing; NSCLC = non-small cell lung cancer; PCR = polymerase chain reaction; WES = whole exome sequencing.
FoundationOne
®
covers 322 genes (and gene rearrangements).
12
FoundationOne CDx™ uses NGS to detect substitutions, insertions and deletions, and copy number alterations in 324
genes and select gene rearrangements TMB: total number of synonymous and nonsynonymous variants (≥5% allele frequency) after filtering germline mutations. References in the slide
notes.