Nature Biotechnology,
Journal Year:
2023,
Volume and Issue:
41(10), P. 1457 - 1464
Published: Feb. 6, 2023
DNA
comprises
molecular
information
stored
in
genetic
and
epigenetic
bases,
both
of
which
are
vital
to
our
understanding
biology.
Most
sequencing
approaches
address
either
genetics
or
epigenetics
thus
capture
incomplete
information.
Methods
widely
used
detect
bases
fail
common
C-to-T
mutations
distinguish
5-methylcytosine
from
5-hydroxymethylcytosine.
We
present
a
single
base-resolution
methodology
that
sequences
complete
the
two
most
cytosine
modifications
workflow.
is
copied
enzymatically
converted.
Coupled
decoding
across
original
copy
strand
provides
phased
digital
readout.
demonstrated
on
human
genomic
cell-free
blood
sample
patient
with
cancer.
The
approach
accurate,
requires
low
input
has
simple
workflow
analysis
pipeline.
Simultaneous,
reading
more
picture
genomes
applications
throughout
biomedicine.
JAMA Oncology,
Journal Year:
2022,
Volume and Issue:
8(12), P. 1830 - 1830
Published: Oct. 20, 2022
Importance
Personalized
medicine
based
on
tumor
profiling
and
identification
of
actionable
genomic
alterations
is
pivotal
in
cancer
management.
Although
tissue
biopsy
still
preferred
for
diagnosis,
liquid
blood-based
analytes,
such
as
circulating
DNA,
a
rapidly
emerging
technology
profiling.
Observations
This
review
presents
practical
overview
clinicians
allied
health
care
professionals
selection
the
most
appropriate
assay,
specifically
focusing
DNA
how
it
may
affect
patient
treatment
case
management
across
multiple
types.
Multiple
factors
influence
analytical
validity,
clinical
utility
testing.
provides
recommendations
guidance
best
practice.
Current
methodologies
include
polymerase
chain
reaction-based
approaches
those
that
use
next-generation
sequencing
(eg,
capture-based
profiling,
whole
exome,
or
genome
sequencing).
Factors
sensitivity
specificity,
quantity
detection
small
vs
large
panel
genes,
clonal
hematopoiesis
indeterminate
potential.
Currently,
appears
useful
patients
unable
to
undergo
where
mutations
detected
be
more
representative
predominant
burden
than
tissue-based
assays.
Other
potential
applications
screening,
primary
residual
disease,
local
recurrence,
therapy
selection,
early
response
resistance
monitoring.
Conclusions
Relevance
found
increasingly
being
used
clinically
advanced
lung
cancer,
ongoing
research
identifying
DNA-based
testing
complement
analysis
broad
range
settings.
Circulating
technologies
are
advancing
quickly
demonstrating
benefits
patients,
practitioners,
systems,
researchers,
at
many
stages
oncologic
journey.
International Journal of Molecular Sciences,
Journal Year:
2023,
Volume and Issue:
24(3), P. 2505 - 2505
Published: Jan. 28, 2023
Lung
cancer
is
the
deadliest
worldwide.
Tissue
biopsy
currently
employed
for
diagnosis
and
molecular
stratification
of
lung
cancer.
Liquid
a
minimally
invasive
approach
to
determine
biomarkers
from
body
fluids,
such
as
blood,
urine,
sputum,
saliva.
Tumor
cells
release
cfDNA,
ctDNA,
exosomes,
miRNAs,
circRNAs,
CTCs,
DNA
methylated
fragments,
among
others,
which
can
be
successfully
used
diagnosis,
prognosis,
prediction
treatment
response.
Predictive
are
well-established
managing
cancer,
liquid
options
have
emerged
in
last
few
years.
Currently,
detecting
EGFR
p.(Tyr790Met)
mutation
plasma
samples
patients
has
been
predicting
response
monitoring
tyrosine
kinase
inhibitors
(TKi)-treated
with
In
addition,
many
efforts
continue
bring
more
sensitive
technologies
improve
detection
clinically
relevant
Moreover,
dramatically
decrease
turnaround
time
laboratory
reports,
accelerating
beginning
improving
overall
survival
patients.
Herein,
we
summarized
all
available
emerging
approaches
biopsy—techniques,
molecules,
sample
type—for
Cancer Cell,
Journal Year:
2022,
Volume and Issue:
40(9), P. 999 - 1009.e6
Published: Sept. 1, 2022
Cancer
patients
benefit
from
early
tumor
detection
since
treatment
outcomes
are
more
favorable
for
less
advanced
cancers.
Platelets
involved
in
cancer
progression
and
considered
a
promising
biosource
detection,
as
they
alter
their
RNA
content
upon
local
systemic
cues.
We
show
that
tumor-educated
platelet
(TEP)
RNA-based
blood
tests
enable
the
of
18
types.
With
99%
specificity
asymptomatic
controls,
thromboSeq
correctly
detected
presence
two-thirds
1,096
samples
stage
I–IV
half
352
I–III
tumors.
Symptomatic
including
inflammatory
cardiovascular
diseases,
benign
tumors
had
increased
false-positive
test
results
with
an
average
78%.
Moreover,
determined
site
origin
five
different
types
over
80%
patients.
These
highlight
potential
properties
TEP-derived
panels
to
supplement
current
approaches
blood-based
screening.
Nature Biotechnology,
Journal Year:
2023,
Volume and Issue:
41(10), P. 1457 - 1464
Published: Feb. 6, 2023
DNA
comprises
molecular
information
stored
in
genetic
and
epigenetic
bases,
both
of
which
are
vital
to
our
understanding
biology.
Most
sequencing
approaches
address
either
genetics
or
epigenetics
thus
capture
incomplete
information.
Methods
widely
used
detect
bases
fail
common
C-to-T
mutations
distinguish
5-methylcytosine
from
5-hydroxymethylcytosine.
We
present
a
single
base-resolution
methodology
that
sequences
complete
the
two
most
cytosine
modifications
workflow.
is
copied
enzymatically
converted.
Coupled
decoding
across
original
copy
strand
provides
phased
digital
readout.
demonstrated
on
human
genomic
cell-free
blood
sample
patient
with
cancer.
The
approach
accurate,
requires
low
input
has
simple
workflow
analysis
pipeline.
Simultaneous,
reading
more
picture
genomes
applications
throughout
biomedicine.
