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Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers.
[esophageal squamous cell carcinoma]
The
chromosome
9
p
21
region
has
been
implicated
in
the
pathogenesis
of
multiple
cancers
.
We
analyzed
9
p
21
single
nucleotide
polymorphisms
(
SNPs
)
from
eight
genome-
wide
association
studies
(
GWAS
)
with
data
deposited
in
dbGaP
,
including
studies
of
esophageal
squamous
cell
carcinoma
(
ESCC
)
,
gastric
cancer
(
GC
)
,
pancreatic
cancer
,
renal
cell
carcinoma
(
RCC
)
,
lung
cancer
(
LC
)
,
breast
cancer
(
BrC
)
,
bladder
cancer
(
BC
)
and
prostate
cancer
(
PrC
)
.
The
number
of
subjects
ranged
from
2252
(
PrC
)
to
7619
(
LC
)
.
SNP-level
analyses
for
each
cancer
were
conducted
by
logistic
regression
or
random-effects
meta
-analysis
.
A
subset-based
statistical
approach
(
ASSET
)
was
performed
to
combine
SNP-level
P
values
across
multiple
cancers
.
We
calculated
gene
-level
P
values
using
the
adaptive
rank
truncated
product
method
.
We
identified
that
rs
1063192
and
rs
2157719
in
the
CDKN
2
A
/
2
B
region
were
significantly
associated
with
ESCC
and
rs
2764736
(
3
'
of
TUSC
1
)
was
associated
with
BC
(
P
≤
2
.
59
×
10
(
-
6
)
)
.
ASSET
analyses
identified
four
SNPs
significantly
associated
with
multiple
cancers
:
rs
3731239
(
CDKN
2
A
intronic
)
with
ESCC
,
GC
and
BC
(
P
=
3
.
96
×
10
(
-
)
(
4
)
)
;
rs
10811474
(
3
'
of
IFNW
1
)
with
RCC
and
BrC
(
P
=
0
.
001
)
;
rs
12683422
(
LINGO
2
intronic
)
with
RCC
and
BC
(
P
=
5
.
93
×
10
(
-
)
(
4
)
)
and
rs
10511729
(
3
'
of
ELAVL
2
)
with
LC
and
BrC
(
P
=
8
.
63
×
10
(
-
)
(
4
)
)
.
At
gene
level
,
CDKN
2
B
,
CDKN
2
A
and
CDKN
2
B
-AS
1
were
significantly
associated
with
ESCC
(
P
≤
4
.
70
×
10
(
-
)
(
5
)
)
.
Rs
10511729
and
rs
10811474
were
associated
with
cis-expression
of
9
p
21
genes
in
corresponding
cancer
tissues
in
the
expression
quantitative
trait
loci
analysis
.
In
conclusion
,
we
identified
several
genetic
variants
in
the
9
p
21
region
associated
with
the
risk
of
multiple
cancers
,
suggesting
that
this
region
may
contribute
to
a
shared
susceptibility
across
different
cancer
types
.
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
