Genes,
Journal Year:
2022,
Volume and Issue:
13(4), P. 644 - 644
Published: April 5, 2022
Genetic
variants
located
in
non-coding
regions
can
affect
processes
that
regulate
protein
expression,
functionally
contributing
to
human
disease.
Germline
heterozygous
mutations
the
region
of
PTEN
gene
have
been
previously
identified
patients
with
hamartoma
tumor
syndrome
(PHTS)
diagnosed
breast,
thyroid,
and/or
endometrial
cancer.
In
this
study,
we
report
a
promoter
variant
(rs34149102
A
allele)
was
by
direct
sequencing
an
Italian
family
history
gastroesophageal
junction
(GEJ)
adenocarcinoma
and
breast
order
investigate
putative
functional
role
rs34149102
allele
variant,
evaluated
status
alterations
at
somatic
level.
We
found
expression
absent
GEJ
tissue
index
case.
Moreover,
detected
occurrence
copy
number
loss
involving
major
C
tissue,
revealing
second
somatically
inactivated.
This
is
within
active
regulatory
core
promoter,
silico
analysis
suggests
it
may
binding
nuclear
transcription
factor
MAZ
hence
expression.
Overall,
these
results
reveal
modulation
highlight
its
contribution
hereditary
cancer
risk.
JAMA,
Journal Year:
2023,
Volume and Issue:
329(15), P. 1296 - 1296
Published: April 18, 2023
Importance
Skin
cancer
is
the
most
common
type
and
a
major
cause
of
morbidity.
Objective
To
systematically
review
benefits
harms
screening
for
skin
to
inform
US
Preventive
Services
Task
Force.
Data
Sources
MEDLINE,
Embase,
Cochrane
Central
Register
Controlled
Trials
from
June
1,
2015,
through
January
7,
2022;
surveillance
December
16,
2022.
Study
Selection
English-language
studies
conducted
in
asymptomatic
populations
15
years
or
older.
Extraction
Synthesis
Two
reviewers
independently
appraised
articles
extracted
relevant
data
fair-
good-quality
studies;
results
were
narratively
summarized.
Main
Outcomes
Measures
Morbidity;
mortality;
stage,
precursor
lesions,
lesion
thickness
at
detection;
screening.
Results
Twenty
29
included
(N
=
6
053
411).
Direct
evidence
on
effectiveness
was
3
nonrandomized
analyses
2
population-based
programs
Germany
(n
1
791
615)
suggested
no
melanoma
mortality
benefit
population
level
over
4
10
years’
follow-up.
Six
935
513)
provided
inconsistent
association
between
clinician
examination
stage
diagnosis.
Compared
with
usual
care,
routine
not
associated
increased
detection
lesions
(5
studies)
(3
studies).
Evidence
Nine
326
051)
found
consistent
positive
more
advanced
increasing
risk
melanoma-associated
all-cause
mortality.
232)
little
persistent
cosmetic
psychosocial
Conclusions
Relevance
A
substantial
base
suggests
clear
earlier
decreased
risk.
However,
suggest
visual
adolescents
adults
detection.
regarding
whether
thinner
European Journal of Cancer,
Journal Year:
2022,
Volume and Issue:
175, P. 77 - 85
Published: Sept. 9, 2022
AimsGlobal
survival
studies
in
cancer
have
generally
shown
favourable
development,
but
over
extended
periods
on
populations
for
which
medical
care
is
essentially
free
of
charge
are
lacking.MethodsWe
analyse
relative
1-
and
5-year
all
solid
cancers
Denmark,
Finland,
Norway
Sweden
through
a
50-year
period
(1970–2019)
using
the
NORDCAN
database.ResultsThe
most
recent
results
showed
three
types
patterns.
Cancers
very
good
(5-year
∼90%)
included
common
breast
prostate,
as
well
melanoma.
The
second
pattern,
largest
number
cancers,
1-year
80%
drop
10–20
%
units
survival.
third
group
consisted
eight
fatal
sharing
poor
(around
20%).
improvement
was
(30–50
units)
kidney,
brain,
gallbladder
liver
(∼30%)
colon,
small
intestinal,
lung,
pleural,
pancreas
ovarian
cancers.
Improvements
were
highest
(40–50
prostate
kidney
remained
at
Survival
significant
sex
preferences
few
cancers.ConclusionsThe
analysis
half-century
confirms
progress
'real-world'
control,
84%
patients
>60%.
Metastases
remain
challenge,
placing
emphasis
early
detection
before
metastasis
occurs.
Novel
therapies,
such
immunotherapy
has
curative
potential
even
against
metastatic
disease,
needed.
American Journal of Hematology,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Sept. 6, 2024
Abstract
Disease
Overview
Hodgkin
lymphoma
(HL)
is
an
uncommon
B‐cell
lymphoid
malignancy
affecting
8570
new
patients
annually
and
representing
~10%
of
all
lymphomas
in
the
United
States.
Diagnosis
HL
composed
two
distinct
disease
entities:
classical
nodular
lymphocyte
predominant
(also
called
lymphoma).
Nodular
sclerosis,
mixed
cellularity,
depletion,
lymphocyte‐rich
are
subgroups
HL.
Risk
Stratification
An
accurate
assessment
stage
with
critical
for
selection
appropriate
therapy.
Prognostic
models
that
identify
at
low
or
high
risk
recurrence,
as
well
response
to
therapy
determined
by
positron
emission
tomography
(PET)
scan,
used
optimize
Risk‐Adapted
Therapy
Initial
based
on
histology
disease,
anatomical
presence
poor
prognostic
features.
Patients
early‐stage
typically
treated
combined
modality
strategies
utilizing
abbreviated
courses
combination
chemotherapy
followed
involved‐field
radiation
therapy,
whereas
those
advanced
receive
a
longer
course
often
without
However,
newer
agents
including
brentuximab
vedotin
anti‐PD‐1
antibodies
now
standardly
incorporated
into
frontline
Management
Relapsed/Refractory
High‐dose
(HDCT)
autologous
stem
cell
transplant
(ASCT)
standard
care
most
who
relapse
following
initial
For
fail
HDCT
ASCT,
vedotin,
PD‐1
blockade,
non‐myeloablative
allogeneic
participation
clinical
trial
should
be
considered.
Cancers,
Journal Year:
2023,
Volume and Issue:
15(3), P. 991 - 991
Published: Feb. 3, 2023
Background:
Survival
studies
in
intestinal
cancers
have
generally
shown
favorable
development,
but
few
been
able
to
pinpoint
the
timing
of
changes
survival
over
an
extended
period.
Here,
we
compared
relative
rates
for
colon,
rectal
and
small
from
Denmark
(DK),
Finland
(FI),
Norway
(NO)
Sweden
(SE).
Design:
Relative
1-,
5-
5/1-year
conditional
data
were
obtained
NORDCAN
database
years
1971–2020.
Results:
The
50-year
patterns
country-specific.
For
colon
cancers,
slopes
curves
bended
upwards
DK,
almost
linear
NO
downwards
FI
SE;
5-year
was
highest
DK.
cancer
initially
below
it
caught
up
toward
end
follow-up.
Conclusions:
has
developed
well
Nordic
countries,
DK
is
example
a
country
which
20
achieve
excellent
cancers.
In
other
increase
slowed
down,
may
be
challenge
posed
by
metastatic
Human Reproduction,
Journal Year:
2024,
Volume and Issue:
39(4), P. 822 - 833
Published: Feb. 22, 2024
Abstract
STUDY
QUESTION
Can
we
simultaneously
assess
risk
for
multiple
cancers
to
identify
familial
multicancer
patterns
in
families
of
azoospermic
and
severely
oligozoospermic
men?
SUMMARY
ANSWER
Distinct
cancer
were
observed
the
azoospermia
severe
oligozoospermia
cohorts,
suggesting
heterogeneity
by
both
type
subfertility
within
type.
WHAT
IS
KNOWN
ALREADY
Subfertile
men
their
relatives
show
increased
certain
including
testicular,
thyroid,
pediatric.
DESIGN,
SIZE,
DURATION
A
retrospective
cohort
subfertile
(N
=
786)
was
identified
matched
fertile
population
controls
5674).
Family
members
out
third-degree
337
754).
The
study
period
1966–2017.
Individuals
censored
at
death
or
loss
follow-up,
follow-up
occurred
if
they
left
Utah
during
period.
PARTICIPANTS/MATERIALS,
SETTING,
METHODS
Azoospermic
(0
×
106/mL)
(<1.5
Subfertility
Health
Assisted
Reproduction
Environment
(SHARE).
age-
sex-matched
5:1
family
using
Population
Database
(UPDB).
Cancer
diagnoses
through
Registry.
Families
containing
≥10
with
≥1
year
1966–2017
included
(azoospermic:
N
426
families,
21
361
individuals;
oligozoospermic:
360
18
818
individuals).
Unsupervised
clustering
based
on
standardized
incidence
ratios
34
phenotypes
used
patterns;
oligospermia
assessed
separately.
MAIN
RESULTS
AND
THE
ROLE
OF
CHANCE
Compared
control
significant
increases
risks
five
types:
bone
joint
hazard
ratio
(HR)
2.56
(95%
CI
1.48–4.42),
soft
tissue
HR
1.56
1.01–2.39),
uterine
1.27
1.03–1.56),
Hodgkin
lymphomas
1.60
1.07–2.39),
thyroid
1.54
1.21–1.97).
Among
seen
three
colon
1.16
1.01–1.32),
2.43
1.30–4.54),
testis
2.34
1.60–3.42)
along
a
decrease
esophageal
0.39
0.16–0.97).
Thirteen
clusters
men,
66%
showed
population-level
risks,
however,
remaining
12
elevated
2-7
types.
Several
also
odds
young
ages
six
showing
adolescent
adult
(AYA)
diagnosis
[odds
(OR)
1.96–2.88]
two
pediatric
(OR
3.64–12.63).
Within
cohort,
distinct
identified.
All
1–3
An
increase
clusters,
AYA
2.19–2.78)
an
additional
3.84–9.32).
LIMITATIONS,
REASONS
FOR
CAUTION
Although
this
has
many
strengths,
data
structure,
subfertility,
there
are
limitations.
First,
semen
measures
not
available
sample
men.
Second,
is
no
information
medical
comorbidities
lifestyle
factors
such
as
smoking
status,
BMI,
environmental
exposures.
Third,
all
fertility
clinic
evaluation.
These
therefore
subset
overall
experiencing
problems
likely
represent
those
socioeconomic
means
evaluation
physician.
WIDER
IMPLICATIONS
FINDINGS
This
analysis
leveraged
unique
resources,
SHARE
UPDB,
describe
novel
among
Describing
similar
provides
new
avenue
homogeneity
focused
gene
discovery
factor
studies.
Such
discoveries
will
lead
more
accurate
predictions
improved
counseling
patients
families.
FUNDING/COMPETING
INTEREST(S)
work
funded
GEMS:
Genomic
approach
connecting
Elevated
germline
Mutation
rates
male
infertility
Somatic
health
(Eunice
Kennedy
Shriver
National
Institute
Child
Human
Development
(NICHD):
R01
HD106112).
authors
have
conflicts
interest
relevant
work.
TRIAL
REGISTRATION
NUMBER
N/A.
Hereditary Cancer in Clinical Practice,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Feb. 21, 2025
Abstract
Background
The
Swedish
Family-Cancer
Database
(FCD)
is
the
largest
source
of
data
on
familial
cancer
in
world,
including
practically
complete
family
structures
and
individual
diagnoses
from
high-quality
registry.
We
present
a
novel
application
FCD
by
analyzing
age-specific
risks
interpreting
them
through
likely
causes,
such
as
germline
pathogenic
variants
and/or
environmental
exposures.
Main
body
basic
assumption
for
this
approach
that
discrete
clustering
narrow
age-interval
not
random
but
may
provide
causal
clues.
For
analysis
we
selected
reasonably
common
cancers
to
meaningfully
scrutinize
risk
adulthood
which
are
diagnosed,
included
colorectal
(CRC)
endometrial
cancers,
prostate
kidney
breast
lung
cancers.
interpretation
based
literature.
highest
relative
CRC
were
found
at
ages
40–44
years,
matching
peak
impact
mismatch
repair
gene
mutations.
However
showed
also
small
early
onset
component
could
be
explained.
Age-related
breast,
matched
large-scale
sequencing;
these
was
due
VHL
Age
distribution
unique
showing
wide
extending
middle
old
ages,
would
consistent
with
combination
direct
genetic
effects
indirect
influence
inheritance
smoking
dependence.
Conclusions
review
age-of-onset
literature
allow
an
landscapes
harmonious
relatively
higher
no
peaks
can
implicate
attenuated
high-risk
genes
polygenic
influence.
Hereditary Cancer in Clinical Practice,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Feb. 27, 2025
Abstract
Background
Germline
genetic
susceptibilities
of
rare
cancers
the
esophagus,
stomach,
small
intestine,
testis,
(nonmedullary)
thyroid
gland
and
bone
with
high
familial
risks
are
not
well
known.
Here,
we
use
risk
data
from
Swedish
Family-Cancer
Database
which
contains
records
in
families
obtained
over
a
century.
We
compare
for
offspring
diagnosed
any
these
when
their
parent
had
or
that
cancer.
review
global
literature
reported
constitutional
variants
may
explain
part
risk.
Main
body
Familial
esophageal
stomach
about
2.0
apart
early-onset
cancer
few
high-risk
Genetic
studies
be
hampered
by
dominant
environmental
factors
cancers.
Small
intestinal
carcinoids
have
very
(28
between
siblings)
but
no
genes
been
identified
to
this.
Low-risk
polygenic
identified.
adenocarcinoma
is
manifestation
Lynch
syndrome.
Testicular
characterized
(about
5)
explained
largely
background,
although
component
number
syndromes.
Several
predisposing
(familial
7).
Conclusions
The
discussed
they
present
relatively
risk,
spite
lacking
high-penetrant
variants.
It
possible
component,
already
recognized
testis
cancer,
stronger
than
previously
expected.
Thus
models
high/moderate-
low-risk
could
fit
shape
germline
landscape
Polygenic
background
clinical
implications.
Journal of Neurosurgery Case Lessons,
Journal Year:
2025,
Volume and Issue:
9(9)
Published: March 3, 2025
Advances
in
cancer
genome
analysis
technology
have
made
individual
profiling
(CGP)
possible.
CGP
can
indicate
the
presence
of
hereditary
tumors,
which
are
caused
by
germline
pathogenic
variants
oncogenes
or
tumor
suppressor
genes;
if
a
is
suspected,
multigene
panel
testing
(MGPT)
performed.
Genomic
medicine
thus
plays
an
important
role
diagnosing
tumors.
A
41-year-old
man
presented
with
headache
and
depressive
symptoms.
Close
examination
revealed
mass
lesion
cystic
components
right
parietal
lobe.
The
was
removed
via
craniotomy
pathologically
diagnosed
as
high-grade
glioma.
area
high
mutation
burden
multiple
presumed
variants.
MGPT
peripheral
blood
detected
variant
MSH6.
patient
therefore
Lynch
syndrome.
Family
history
genetic
risk
assessments,
including
CGP,
for
diseases.
Next-generation
sequencing
essential
analyses,
many
mutations
identified
using
tumor-only
efficient
option.
In
addition,
MSH6
syndrome
determining
treatment.
particular,
functional
somatic
understanding
disease
associations.
https://thejns.org/doi/10.3171/CASE24718.