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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
"yielding a mean of 82 non-silent mutations per tumor"
symptom
esophageal adenocarcinoma
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