Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated