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A random Abstract
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Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis.
[esophageal adenocarcinoma]
Cancer
genome
sequencing
studies
have
identified
numerous
driver
genes
,
but
the
relative
timing
of
mutations
in
carcinogenesis
remains
unclear
.
The
gradual
progression
from
premalignant
Barrett
's
esophagus
to
esophageal
adenocarcinoma
(
EAC
)
provides
an
ideal
model
to
study
the
ordering
of
somatic
mutations
.
We
identified
recurrently
mutated
genes
and
assessed
clonal
structure
using
whole-genome
sequencing
and
amplicon
resequencing
of
112
EACs
.
We
next
screened
a
cohort
of
109
biopsies
from
2
key
transition
points
in
the
development
of
malignancy
:
benign
metaplastic
never-
dysplastic
Barrett
's
esophagus
(
NDBE
;
n
=
66
)
and
high
-grade
dysplasia
(
HGD
;
n
=
43
)
.
Unexpectedly
,
the
majority
of
recurrently
mutated
genes
in
EAC
were
also
mutated
in
NDBE
.
Only
TP
53
and
SMAD
4
mutations
occurred
in
a
stage
-
specific
manner
,
confined
to
HGD
and
EAC
,
respectively
.
Finally
,
we
applied
this
knowledge
to
identify
high
-risk
Barrett
's
esophagus
in
a
new
non-endoscopic
test
.
In
conclusion
,
mutations
in
EAC
driver
genes
generally
occur
exceptionally
early
in
disease
development
with
profound
implications
for
diagnostic
and
therapeutic
strategies
.
Diseases
Validation
Diseases presenting
"but the relative timing of mutations in carcinogenesis remains unclear"
symptom
esophageal adenocarcinoma
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