Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The MDM2 SNP309 G allele is not preferentially amplified in bone and soft tissue tumors.
[well-differentiated liposarcoma]
The
transcriptional
enhancer
region
in
intron
1
of
the
proto-oncogene
MDM
2
contains
a
polymorphic
site
(
SNP
309
)
that
may
harbor
a
G
or
a
T
nucleotide
.
Previous
studies
have
shown
that
the
G
allele
confers
a
higher
affinity
for
the
Sp
1
transcription
factor
,
resulting
in
an
increased
transcriptional
activity
of
MDM
2
.
A
constitutional
G
allele
has
also
been
associated
with
earlier
onset
of
various
cancer
types
,
and
studies
of
sarcomas
have
shown
an
enrichment
of
the
G
allele
in
tumors
with
MDM
2
amplification
,
notably
atypical
lipomatous
tumor
(
also
known
as
well-differentiated
liposarcoma
)
.
In
the
present
study
,
we
analyzed
the
SNP
309
genotype
in
blood
samples
and
tumor
tissue
from
57
patients
with
bone
or
soft
tissue
tumors
showing
amplification
of
MDM
2
.
We
did
not
observe
any
constitutional
enrichment
of
the
G
allele
.
More
importantly
,
there
was
no
preferential
amplification
of
the
G
allele
in
tumor
tissue
from
TG
heterozygotes
.
The
expression
levels
of
MDM
2
messenger
RNA
were
not
higher
in
tumors
with
amplification
of
the
G
allele
than
in
tumors
with
amplification
of
the
T
allele
.
Thus
,
we
could
not
find
any
evidence
for
a
selective
advantage
of
the
SNP
309
G
allele
in
bone
and
soft
tissue
tumors
with
MDM
2
amplification
.
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