Biomedicines,
Год журнала:
2024,
Номер
12(12), С. 2906 - 2906
Опубликована: Дек. 20, 2024
Background:
Although
genetic
testing
has
improved
our
ability
to
diagnose
Lynch
syndrome
(LS),
there
is
still
limited
information
on
the
extent
of
variations
in
clinical
and
landscape
among
LS
variant
heterozygotes
(LSVH)
Africa.
We
sought
investigate
cancer
spectrum,
cumulative
risk,
survival
outcomes
LSVH
with
pathogenic/likely
pathogenic
variants
(P/LPVs)
MLH1
MSH2
genes
using
a
registry
South
Africa
over
last
30
years.
Methods:
A
retrospective
study
was
conducted
retrieve
demographic,
clinical,
data
all
P/LPVs
from
registry.
Genetic
were
analyzed
according
crude
survival.
used
Chi-squared
t-test
assess
differences
between
groups,
Kaplan–Meier
analyses
analyze
risk
outcomes.
p-value
<
0.05
at
95%
confidence
interval
considered
statistically
significant.
Results:
total
577
109
families.
About
450
(78%)
127
(22%)
harbored
disease-causing
mutation
MSH2,
respectively.
African
founder
PV
(MLH1:c.1528C>T)
accounted
for
74%
(n
=
426)
LSVH.
CRC
most
common
diagnosed
both
had
younger
age
diagnosis
than
(43
vs.
47
years,
respectively,
p
0.015).
Extracolonic
cancers
predominantly
higher
female
33,
35%)
male
8,
7%)
MLH1:c.1528C>T
PV.
The
any
(p
0.020
0.036,
respectively).
better
10-year
overall
after
first
diagnosis,
particularly
CRC.
Conclusions:
exhibited
significant
gene-
sex-specific
Cancer
estimates
described
this
can
be
guide
surveillance
counselling
population.
Clinical & Translational Oncology,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 17, 2025
Abstract
Males
have
a
higher
incidence
and
mortality
rate
from
colorectal
cancer
(CRC)
compared
with
females.
This
review
examines
the
reasons
for
these
differences,
including
risk
factors,
screening
participation,
interpretation
of
tests,
presentation
tumour
types,
pathophysiology
(particularly
impact
sex
hormones
on
tumour-related
gene
expression,
microsatellite
instability,
micro-RNA
microenvironment),
efficacy
toxicity
treatment.
Sex
differences
in
body
composition
are
responsible
some
sexual
dimorphism
CRC
outcomes,
particularly
pathophysiology,
presentation,
pharmacokinetics
cytotoxic
therapies,
treatment
outcomes.
However,
gender
also
play
role,
affecting
access
to
or
participation
treatment,
patients’
experience
(e.g.
adverse
events
sequelae).
issues
warrant
further
investigation
optimise
outcomes
patients.
Abstract
Background
Colorectal
cancer
with
liver
metastasis
affects
both
men
and
women.
However,
therapeutic
strategies
long-term
outcomes
could
be
influenced
by
patients’
sex,
due
to
variations
in
tumour
biology,
lifestyle,
dietary
habits.
By
conducting
a
comprehensive
comparative
analysis,
this
study
aims
detail
differences
characteristics,
postoperative
complications,
recurrence
rates,
survival
between
sexes.
Methods
Single-centre
retrospective
analysis
2010
2022
of
all
patients
undergoing
surgery
for
colorectal
metastases
(CRLM)
at
the
Department
Surgery,
Charité–
Universitätsmedizin
Berlin.
Patients
were
stratified
sex.
Statistical
was
performed
using
R
V4.2.
Results
We
analysed
642
who
underwent
hepatic
resections
CRLM.
Baseline
patient
characteristics
comparable
sexes:
significant
(
p
<
0.001)
noted
body
mass
index
(BMI),
females
exhibiting
lower
BMIs
(median
BMI
females:
23.7
kg/m²
vs.
males:
26.5
kg/m²).
Primary
locations
varied
significantly
=
0.008),
presenting
more
sigmoid
colon
tumours
(37%),
while
males
predominantly
had
rectal
(35%).
RAS
mutation
rates
higher
(54%)
than
(34%,
0.005).
A
prevalence
bilobar
evident
(62%,
0.011),
yet
surgical
techniques
complications
showed
distributions.
The
time
resection
longer
304
min
290
females);
however,
conversion
open
took
place
often
(5.2%
2.3%
males).
Postoperative
no
Conclusion
Distinct
sex-related
patterns
CRLM
observed,
emphasizing
need
further
investigations
understand
address
gender-based
disparities
personalized
clinical
management
future.
Trial
registration
This
research
conducted
ethical
approval
from
relevant
institutional
review
board
Ethikkommission
der
Berlin’
(reference
numbers
EA2/006/16
EA4/084/17).
No
other
applied.
The Cancer Journal,
Год журнала:
2024,
Номер
30(5), С. 357 - 369
Опубликована: Сен. 1, 2024
Obesity
and
colorectal
cancer
are
global
public
health
issues,
with
the
prevalence
of
both
conditions
increasing
over
last
4
decades.
In
United
States
alone,
obesity
is
greater
than
40%,
this
percentage
projected
to
increase
past
50%
by
2030.
This
review
focuses
on
understanding
association
between
risk
while
also
highlighting
hypotheses
about
molecular
mechanisms
underlying
link
these
disease
processes.
We
consider
whether
those
linkages
can
be
disrupted
via
weight
loss
therapies,
including
lifestyle
modifications,
pharmacotherapy,
bariatric
surgery,
endobariatrics.
Nucleic Acids Research,
Год журнала:
2024,
Номер
53(D1), С. D1443 - D1459
Опубликована: Ноя. 13, 2024
The
NIH
policy
on
sex
as
biological
variable
(SABV)
emphasized
the
importance
of
sex-based
differences
in
precision
oncology.
Over
50%
clinically
actionable
oncology
genes
are
sex-biased,
indicating
drug
efficacy.
Research
has
identified
non-reproductive
cancers,
highlighting
need
for
comprehensive
cancer
data.
We
therefore
developed
OncoSexome,
a
multidimensional
knowledge
base
describing
(https://idrblab.org/OncoSexome/)
across
four
key
topics:
antineoplastic
drugs
and
responses
(SDR),
oncology-related
biomarkers
(SBM),
risk
factors
(SRF)
microbial
landscape
(SML).
SDR
covers
2051
anticancer
drugs;
SBM
describes
12
551
sex-differential
biomarkers;
SRF
illustrates
350
sex-dependent
factors;
SML
demonstrates
1386
microbes
with
abundances
associated
development.
OncoSexome
is
unique
illuminating
multifaceted
influences
cancer,
providing
both
external
endogenous
contributors
to
development
broadest
oncological
classes.
Given
increasing
global
research
interest
differences,
expected
impact
future
practices
significantly.
BACKGROUND
Real-world
data
(RWD)
from
sources
like
administrative
claims,
electronic
health
records,
and
cancer
registries
offer
insights
into
patient
populations
beyond
the
tightly
regulated
environment
of
randomized
controlled
trials.
To
leverage
this
to
advance
research,
six
university
hospitals
in
Bavaria
have
established
a
joint
research
IT
infrastructure.
OBJECTIVE
This
article
aims
outline
design,
implementation,
deployment
modular
transformation
pipeline
that
transforms
oncological
RWD
HL7
(Health
Level
7)
FHIR
(Fast
Healthcare
Interoperability
Resources)
format
then
tabular
preparation
for
federated
analysis
(FA)
across
BZKF
hospitals.
METHODS
harness
effectively,
we
designed
convert
basic
dataset
(oBDS)
prepare
it
analysis.
The
handles
diverse
infrastructures
systems
while
maintaining
privacy
by
keeping
decentralized
assess
functionality
validity
our
defined
cohort
address
two
specific
medical
questions.
We
evaluated
findings
comparing
results
FA
with
reports
Bavarian
Cancer
Registry
original
local
tumor
documentation
systems.
RESULTS
conducted
17,885
cases
2021/2022.
Breast
was
most
common
diagnosis
at
three
sites,
prostate
ranked
top
four
malignant
melanoma
notably
prevalent.
Gender-specific
trends
showed
larynx
esophagus
cancers
were
more
males,
breast
thyroid
frequent
females.
Discrepancies
between
data,
such
as
higher
rates
(5
%
vs.
11
%)
lower
representation
colorectal
(13
7
likely
result
differences
time
periods
analyzed
(2019
2021/2022)
scope
used.
approximately
times
than
alone.
CONCLUSIONS
successfully
transformed
hospitals,
approach
preserved
enabling
comprehensive
Future
work
will
add
support
recent
oBDS
versions,
automate
quality
checks,
integrate
additional
clinical
data.
Our
highlight
potential
networks
lay
groundwork
future
can
high-quality
RWD,
aiming
contribute
valuable
knowledge
field
research.
Research Square (Research Square),
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 19, 2024
Abstract
The
behaviour
of
metastases
in
patients
with
liver-metastatic
colorectal
cancer
(CRC)
is
still
not
adequately
considered
during
treatment
planning.
However,
studies
large
cohorts
have
shown
that
the
disease
course
these
depends
on
histopathological
growth
pattern
(HGP)
liver
metastases,
desmoplastic
(or
encapsulated)
responsible
for
a
favourable
outcome
and
replacement
an
unfavourable
course.
To
increase
our
knowledge
biology
general
as
well
to
design
clinical
trials
take
into
account
diverse
it
necessary
know
cellular
molecular
determinants
patterns.
For
purpose,
we
compared
transcriptome
tumour
tissue
(n
=
57)
sampled
very
precisely
at
transition
metastasis
adjacent
liver,
between
HGP.
In
addition,
mutational
profiles
46
genes
related
CRC
were
extracted
from
RNA
sequencing
reads.
First,
show
genetic
constitution
does
determine
its
Second,
clear
differences
HGPs
regarding
expression
belonging
Molecular
Signatures
Database
hallmark
gene
sets.
Biological
themes
HGP
reflect
cell
proliferation
glucose
metabolism,
while
characterized
by
inflammation
immune
response,
angiogenesis.
This
study
supports
view
are
reflection
suggests
driven
epigenetically
rather
than
specific
mutations.
