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A random Abstract
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Genetic landscape of esophageal squamous cell carcinoma.
[esophageal adenocarcinoma]
Esophageal
squamous
cell
carcinoma
(
ESCC
)
is
one
of
the
deadliest
cancers
.
We
performed
exome
sequencing
on
113
tumor
-normal
pairs
,
yielding
a
mean
of
82
non-silent
mutations
per
tumor
,
and
8
cell
lines
.
The
mutational
profile
of
ESCC
closely
resembles
those
of
squamous
cell
carcinomas
of
other
tissues
but
differs
from
that
of
esophageal
adenocarcinoma
.
Genes
involved
in
cell
cycle
and
apoptosis
regulation
were
mutated
in
99
%
of
cases
by
somatic
alterations
of
TP
53
(
93
%
)
,
CCND
1
(
33
%
)
,
CDKN
2
A
(
20
%
)
,
NFE
2
L
2
(
10
%
)
and
RB
1
(
9
%
)
.
Histone
modifier
genes
were
frequently
mutated
,
including
KMT
2
D
(
also
called
MLL
2
;
19
%
)
,
KMT
2
C
(
MLL
3
;
6
%
)
,
KDM
6
A
(
7
%
)
,
EP
300
(
10
%
)
and
CREBBP
(
6
%
)
.
EP
300
mutations
were
associated
with
poor
survival
.
The
Hippo
and
Notch
pathways
were
dysregulated
by
mutations
in
FAT
1
,
FAT
2
,
FAT
3
or
FAT
4
(
27
%
)
or
AJUBA
(
JUB
;
7
%
)
and
NOTCH
1
,
NOTCH
2
or
NOTCH
3
(
22
%
)
or
FBXW
7
(
5
%
)
,
respectively
.
These
results
define
the
mutational
landscape
of
ESCC
and
highlight
mutations
in
epigenetic
modulators
with
prognostic
and
potentially
therapeutic
implications
.
Diseases
Validation
Diseases presenting
"squamous cell carcinoma"
symptom
carcinoma of the gallbladder
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
liposarcoma
monosomy 21
oculocutaneous albinism
oral submucous fibrosis
papillon-lefèvre syndrome
This symptom has already been validated