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ERCC1 single nucleotide polymorphism C8092A, but not its expression is associated with survival of esophageal squamous cell carcinoma patients from Fujian province, China.
[esophageal carcinoma]
Esophageal
carcinoma
is
one
of
the
world
's
deadliest
cancers
.
Esophageal
squamous
cell
carcinoma
(
ESCC
)
is
more
frequent
than
adenocarcenoma
(
AC
)
in
China
.
Platinum
-based
chemotherapy
with
surgical
resection
is
a
common
treatment
approach
for
ESCC
;
however
,
the
treatment
response
is
uncertain
.
Evidence
suggests
polymorphisms
in
genes
encoding
excision
repair
cross-complementing
group
1
(
ERCC
1
)
,
a
protein
involved
in
nuclear
excision
repair
(
NER
)
,
may
help
predict
response
to
cisplatin
and
other
platinum-based
chemotherapeutics
.
Multiple
ERCC
1
single
nucleotide
polymorphisms
(
SNPs
)
have
been
associated
with
platinum
chemotherapy
response
.
Two
common
SNPs
occur
at
the
C
8092
A
and
C
118
T
loci
.
Our
study
aimed
to
determine
if
1
)
an
association
exists
between
ERCC
1
tumor
expression
and
patient
survival
,
2
)
whether
adjuvant
therapy
influence
on
survival
is
related
to
histological
ERCC
1
presence
in
tumor
cell
nuclei
,
and
3
)
whether
other
clinicopathological
characteristics
in
a
cohort
of
patients
following
surgery
for
various
stages
of
ESCC
are
associated
with
tumor
ERCC
1
expression
.
One
hundred
eight
patients
were
included
in
the
study
,
and
tumor
biopsy
was
collected
for
genotyping
and
immunohistochemical
analysis
of
ERCC
1
.
Sixty
-
seven
patients
(
62
%
)
received
no
adjuvant
therapy
,
and
the
rest
had
either
platinum-based
chemotherapy
(
28
.
5
%
)
,
radiotherapy
(
6
.
5
%
)
or
both
treatments
(
2
.
8
%
)
.
Log-rank
analysis
revealed
no
significant
connection
between
tumor
ERCC
1
expression
(
P
=
0
.
12
)
or
adjuvant
therapy
(
P
=
0
.
56
)
on
patient
survival
.
Also
,
non-parametric
Mann-
Whitney
analysis
showed
no
significant
link
between
tumor
size
or
nodus
tumor
formation
and
ERCC
1
presence
in
patients
in
the
study
.
Interestingly
,
C
8092
A
SNP
showed
significant
association
with
patient
survival
(
P
=
0
.
01
)
,
with
patients
homozygous
for
the
mutant
allele
showing
the
most
significantly
reduced
survival
(
P
=
0
.
04
)
compared
to
those
homozygous
for
the
dominant
allele
(
CC
)
.
Our
results
provide
novel
insight
into
the
genotypic
variation
of
patients
from
Quanzhou
,
Fujian
province
China
.
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