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Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.
[esophageal adenocarcinoma]
Oesophageal
adenocarcinoma
(
EAC
)
incidence
is
rapidly
increasing
in
Western
countries
.
A
better
understanding
of
EAC
underpins
efforts
to
improve
early
detection
and
treatment
outcomes
.
While
large
EAC
exome
sequencing
efforts
to
date
have
found
recurrent
loss
-of-function
mutations
,
oncogenic
driving
events
have
been
underrepresented
.
Here
we
use
a
combination
of
whole-genome
sequencing
(
WGS
)
and
single
-nucleotide
polymorphism-array
profiling
to
show
that
genomic
catastrophes
are
frequent
in
EAC
,
with
almost
a
third
(
32
%
,
n
=
40
/
123
)
undergoing
chromothriptic
events
.
WGS
of
22
EAC
cases
show
that
catastrophes
may
lead
to
oncogene
amplification
through
chromothripsis-derived
double
-
minute
chromosome
formation
(
MYC
and
MDM
2
)
or
breakage-
fusion
-bridge
(
KRAS
,
MDM
2
and
RFC
3
)
.
Telomere
shortening
is
more
prominent
in
EACs
bearing
localized
complex
rearrangements
.
Mutational
signature
analysis
also
confirms
that
extreme
genomic
instability
in
EAC
can
be
driven
by
somatic
BRCA
2
mutations
.
These
findings
suggest
that
genomic
catastrophes
have
a
significant
role
in
the
malignant
transformation
of
EAC
.
Diseases
Validation
Diseases presenting
"treatment outcomes"
symptom
esophageal adenocarcinoma
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