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MMSET is overexpressed in cancers: link with tumor aggressiveness.
[wolf-hirschhorn syndrome]
MMSET
is
expressed
ubiquitously
in
early
development
and
its
deletion
is
associated
with
the
malformation
syndrome
called
Wolf-
Hirschhorn
syndrome
.
It
is
involved
in
the
t
(
4
;
14
)
(
p
16
;
q
32
)
chromosomal
translocation
,
which
is
the
second
most
common
translocation
in
multiple
myeloma
(
MM
)
and
is
associated
with
the
worst
prognosis
.
MMSET
expression
has
been
shown
to
promote
cellular
adhesion
,
clonogenic
growth
and
tumorigenicity
in
multiple
myeloma
.
MMSET
expression
has
been
recently
shown
to
increase
with
ascending
tumor
proliferation
activity
in
glioblastoma
multiforme
.
These
data
demonstrate
that
MMSET
could
be
implicated
in
tumor
emergence
and
/
or
progression
.
Therefore
,
we
compared
the
expression
of
MMSET
in
40
human
tumor
types--
brain
,
epithelial
,
lymphoid--
to
that
of
their
normal
tissue
counterparts
using
publicly
available
gene
expression
data
,
including
the
Oncomine
Cancer
Microarray
database
.
We
found
significant
overexpression
of
MMSET
in
15
cancers
compared
to
their
normal
counterparts
.
Furthermore
MMSET
is
associated
with
tumor
aggressiveness
or
prognosis
in
many
types
of
these
aforementioned
cancers
.
Taken
together
,
these
data
suggest
that
MMSET
potentially
acts
as
a
pathogenic
agent
in
many
cancers
.
The
identification
of
the
targets
of
MMSET
and
their
role
in
cell
growth
and
survival
will
be
key
to
understand
how
MMSET
is
associated
with
tumor
development
.
Diseases
Validation
Diseases presenting
"tumor development"
symptom
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
primary effusion lymphoma
severe combined immunodeficiency
wolf-hirschhorn syndrome
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