bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2023,
Volume and Issue:
unknown
Published: Sept. 18, 2023
Abstract
Neurodegenerative
diseases,
such
as
Alzheimer’s
disease,
pose
a
significant
global
health
challenge
with
their
complex
etiology
and
elusive
biomarkers.
In
this
study,
we
developed
the
Identification
Tool
using
RNA-Seq
(AITeQ),
machine
learning
model
based
on
an
optimized
random
forest
algorithm
for
identification
of
from
data.
Analysis
data
433
individuals,
including
293
patients
140
controls
led
to
discovery
47,929
differentially
expressed
genes.
This
was
followed
by
protocol
involving
feature
selection,
training,
performance
evaluation,
hyperparameter
tuning.
The
selection
process
undertaken
in
employing
combination
4
different
methodologies,
culminated
compact
yet
impactful
set
5
Ten
diverse
models
were
trained
tested
these
genes
(
ITGA10,
CXCR4,
ADCYAP1,
SLC6A12,
VGF
).
Performance
metrics,
precision,
recall,
F1-score,
accuracy,
receiver
operating
characteristic
area
under
curve,
confusion
matrices,
assessed
before
after
Overall,
hyperparameters
identified
best
used
develop
AITeQ.
AITeQ
is
available
at:
https://github.com/ishtiaque-ahammad/AITeQ
Key
Points
A
)
following
differential
gene
expression
importance
analysis.
algorithms
patterns
customized
found
be
best-performing
differentiating
disease
samples
control.
AITeQ,
user-friendly,
reliable,
accurate
framework
prediction
signature.
International Journal of General Medicine,
Journal Year:
2024,
Volume and Issue:
Volume 17, P. 1773 - 1787
Published: May 1, 2024
Abstract:
Collagen,
the
predominant
protein
constituent
of
mammalian
extracellular
matrix
(ECM),
comprises
a
diverse
family
28
members
(I–XXVIII).
Beyond
its
structural
significance,
collagen
is
implicated
in
various
diseases
or
cancers,
notably
breast
cancer,
where
it
influences
crucial
cellular
processes
including
proliferation,
metastasis,
apoptosis,
and
drug
resistance,
intricately
shaping
cancer
progression
prognosis.
In
distinct
collagens
exhibit
differential
expression
profiles,
with
some
showing
heightened
diminished
levels
cancerous
tissues
cells
compared
to
normal
counterparts,
suggesting
specific
pivotal
biological
functions.
this
review,
we
meticulously
analyze
individual
utilizing
Transcripts
Per
Million
(TPM)
data
sourced
from
GEPIA2
database.
Through
analysis,
identify
that
deviate
patterns
providing
comprehensive
overview
their
dynamics,
functional
roles,
underlying
mechanisms.
Our
findings
shed
light
on
recent
advancements
understanding
intricate
interplay
between
these
aberrantly
expressed
cancer.
This
exploration
aims
offer
valuable
insights
for
identification
potential
biomarkers
therapeutic
targets,
thereby
advancing
prospects
more
effective
interventions
treatment.
Keywords:
collagen,
matrix,
prognostic
marker
Journal of Translational Medicine,
Journal Year:
2024,
Volume and Issue:
22(1)
Published: June 27, 2024
Abstract
CCN4
(cellular
communication
network
factor
4),
a
highly
conserved,
secreted
cysteine-rich
matricellular
protein
is
emerging
as
key
player
in
the
development
and
progression
of
numerous
disease
pathologies,
including
cancer,
fibrosis,
metabolic
inflammatory
disorders.
Over
past
two
decades,
extensive
research
on
its
family
members
uncovered
their
diverse
cellular
mechanisms
biological
functions,
but
not
limited
to
cell
proliferation,
migration,
invasion,
angiogenesis,
wound
healing,
repair,
apoptosis.
Recent
studies
have
demonstrated
that
aberrant
expression
and/or
associated
downstream
signaling
vast
array
pathophysiological
etiology,
suggesting
could
be
utilized
only
non-invasive
diagnostic
or
prognostic
marker,
also
promising
therapeutic
target.
The
cognate
receptor
remains
elusive
till
date,
which
limits
understanding
mechanistic
insights
driven
pathologies.
However,
agents
directed
against
begin
make
way
into
clinic,
may
start
change.
Also,
significance
underexplored,
hence
further
needed
shed
more
light
tissue
specific
functions
better
understand
clinical
translational
benefit.
This
review
highlights
compelling
evidence
overlapping
functional
regulated
by
CCN4,
addition
addressing
challenges,
study
limitations
knowledge
gaps
biology
potential.
Cancer Innovation,
Journal Year:
2025,
Volume and Issue:
4(2)
Published: Feb. 20, 2025
Breast
cancer
(BC)
remains
a
significant
threat
to
women's
health
worldwide.
The
oncology
field
had
an
exponential
growth
in
the
abundance
of
medical
images,
clinical
information,
and
genomic
data.
With
its
continuous
advancement
refinement,
artificial
intelligence
(AI)
has
demonstrated
exceptional
capabilities
processing
intricate
multidimensional
BC-related
AI
proven
advantageous
various
facets
BC
management,
encompassing
efficient
screening
diagnosis,
precise
prognosis
assessment,
personalized
treatment
planning.
However,
implementation
into
precision
medicine
practice
presents
ongoing
challenges
that
necessitate
enhanced
regulation,
transparency,
fairness,
integration
multiple
pathways.
In
this
review,
we
provide
comprehensive
overview
current
research
related
BC,
highlighting
extensive
applications
throughout
whole
cycle
management
potential
for
innovative
impact.
Furthermore,
article
emphasizes
significance
constructing
patient-oriented
algorithms.
Additionally,
explore
opportunities
directions
within
burgeoning
field.
Journal of King Saud University - Science,
Journal Year:
2025,
Volume and Issue:
0, P. 1 - 7
Published: Feb. 28, 2025
Breast
cancer
(BC)
is
the
most
common
malignancy
worldwide,
including
in
Saudi
Arabia.
Because
of
its
heterogeneous
nature,
existing
diagnostic
and
prognostic
biomarkers
are
not
relevant
for
all
cases.
There
a
need
to
discover
novel
early
diagnosis
prognosis
reduce
mortality.
Herein,
we
utilized
an
integrative
bioinformatics
approach
identify
potential
BC.
Gene
expression
profiling
45
BC
five
normal
samples
from
KAUH,
Jeddah
was
done
with
GeneChip
Human
Genome
1.0
ST
Array.
Data
analyzed
by
LIMMA
package
R
differentially
expressed
genes
(DEGs)
detected
Arabian
patients
were
compared
American
Asian
datasets.
Ingenuity
pathway
analysis
tool
gene
ontology
enrichment
conducted
find
aberrant
pathways
associated
Survival
Kaplan
-Meier
plotter
establish
importance
identified
followed
validation
using
qPCR.
The
association
between
RPS21
systematic
therapeutic
response
checked
statistical
methods.
Our
results
revealed
870,
658
567
DEGs
(GSE36295)
(GSE166044)
(GSE15852)
patients,
respectively.
,
CXCL2
TNMD
TOP2A
HMMR
RRM2
groups.
Pathway
cell
cycle
checkpoints
regulation
stathmin1
as
inhibited
activated
pathways,
protein-protein
interaction
(PPI)
network
showed
role
ribosome-related
predicted
be
biomarker.
findings
highlight
good
biomarker
candidate
patients.
It
could
used
globally
after
on
bigger
cohorts.
Functional
alteration
cycle,
regulation,
provided
critical
insights
into
molecular
mechanisms
driving
breast
tumorigenesis.
Discover Oncology,
Journal Year:
2025,
Volume and Issue:
16(1)
Published: March 17, 2025
This
study
proposes
an
advanced
machine
learning
(ML)
framework
for
breast
cancer
diagnostics
by
integrating
transcriptomic
profiling
with
optimized
feature
selection
and
classification
techniques.
A
dataset
of
1759
samples
(987
patients,
772
healthy
controls)
was
analyzed
using
Recursive
Feature
Elimination,
Boruta,
ElasticNet
selection.
Dimensionality
reduction
techniques,
including
Non-Negative
Matrix
Factorization
(NMF),
Autoencoders,
transformer-based
embeddings
(BioBERT,
DNABERT),
were
applied
to
enhance
model
interpretability.
Classifiers
such
as
XGBoost,
LightGBM,
ensemble
voting,
Multi-Layer
Perceptron,
Stacking
trained
grid
search
cross-validation.
Model
evaluation
conducted
accuracy,
AUC,
MCC,
Kappa
Score,
ROC,
PR
curves,
external
validation
performed
on
independent
175
samples.
XGBoost
LightGBM
achieved
the
highest
test
accuracies
(0.91
0.90)
AUC
values
(up
0.92),
particularly
NMF
BioBERT.
The
Voting
method
exhibited
best
accuracy
(0.92),
confirming
its
robustness.
Transformer-based
techniques
significantly
improved
performance
compared
conventional
approaches
like
PCA
Decision
Trees.
proposed
ML
enhances
diagnostic
interpretability,
demonstrating
strong
generalizability
dataset.
These
findings
highlight
potential
precision
oncology
personalized
diagnostics.
AI,
Journal Year:
2025,
Volume and Issue:
6(4), P. 84 - 84
Published: April 18, 2025
Background/Objectives:
Artificial
intelligence
(AI)
is
increasingly
influencing
oncological
research
by
enabling
precision
medicine
in
ovarian
cancer
through
enhanced
prediction
of
therapy
response
and
patient
stratification.
This
systematic
review
meta-analysis
was
conducted
to
assess
the
performance
AI-driven
models
across
three
key
domains:
genomics
molecular
profiling,
radiomics-based
imaging
analysis,
immunotherapy
response.
Methods:
Relevant
studies
were
identified
a
search
multiple
databases
(2020–2025),
adhering
PRISMA
guidelines.
Results:
Thirteen
met
inclusion
criteria,
involving
over
10,000
patients
encompassing
diverse
AI
such
as
machine
learning
classifiers
deep
architectures.
Pooled
AUCs
indicated
strong
predictive
for
genomics-based
(0.78),
(0.88),
immunotherapy-based
(0.77)
models.
Notably,
radiogenomics-based
integrating
data
yielded
highest
accuracy
(AUC
=
0.975),
highlighting
potential
multi-modal
approaches.
Heterogeneity
risk
bias
assessed,
evidence
certainty
graded.
Conclusions:
Overall,
demonstrated
promise
predicting
therapeutic
outcomes
cancer,
with
radiomics
integrated
radiogenomics
emerging
leading
strategies.
Future
efforts
should
prioritize
explainability,
prospective
multi-center
validation,
integration
immune
spatial
transcriptomic
support
clinical
implementation
individualized
treatment
Unlike
earlier
reviews,
this
study
synthesizes
broader
range
applications
provides
pooled
metrics
It
examines
methodological
soundness
selected
highlights
current
gaps
opportunities
translation,
offering
comprehensive
forward-looking
perspective
field.
Health Science Reports,
Journal Year:
2025,
Volume and Issue:
8(5)
Published: April 29, 2025
Noninvasive
diagnostic
methods
are
essential
for
early
cancer
detection
and
improved
patient
outcomes.
Circulating
biomarkers,
measurable
indicators
of
pathological
processes,
offer
a
promising
avenue,
yet
optimal
panels
reliable
diagnosis
remain
undefined.
This
study
evaluates
the
performance
selected
plasma
biomarkers
in
distinguishing
breast
prostate
adenocarcinoma
patients
from
healthy
individuals,
using
statistical
analysis
machine
learning.
We
analyzed
blood
samples
162
participants
(73
patients:
51
with
22
adenocarcinoma;
89
controls).
Levels
12
cancer-associated
biomarkers-including
Ki67,
DNMT1,
BRCA1,
MPO-were
quantified
enzyme-linked
immunosorbent
assays
(ELISA).
Statistical
analyses,
including
Mann-Whitney
U
test
learning
models
(random
forest),
were
employed
to
assess
predictive
accuracy
these
between
cancerous
states.
Biomarkers
such
as
MPO
significantly
elevated
groups.
Random
forest
combinations
(e.g.,
BRCA1-CTA-TP53)
achieved
perfect
classification
(AUC
=
1.00).
However,
high
inter-marker
correlations
suggested
potential
redundancy,
underscoring
need
biomarker
panel
optimization.
Our
findings
support
accurate,
noninvasive
diagnostics.
Further
validation
larger,
more
diverse
cohorts
is
warranted
establish
clinical
utility
generalizability.