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Profiling of chromosomal changes in potentially malignant and malignant oral mucosal lesions from South and South-East Asia using array-comparative genomic hybridization.
[oral submucous fibrosis]
Using
array-
CGH
,
the
present
study
aimed
to
explore
genome-
wide
profiles
of
chromosomal
aberrations
in
samples
of
oral
cancer
(
OC
)
,
oral
submucous
fibrosis
(
OSF
)
and
their
corresponding
normal
oral
mucosa
from
Indian
(
n
=
18
)
and
OC
from
Sri
Lankan
(
n
=
12
)
patients
with
history
of
BQ
use
,
and
correlate
the
findings
to
other
clinicopathological
parameters
.
A
second
aim
was
to
verify
the
results
from
the
array-
CGH
by
selecting
a
candidate
gene
,
S
100
A
14
,
and
examine
its
expression
and
genetic
polymorphisms
by
immunohistochemistry
(
IHC
)
and
restriction
fragment
length
polymorphism
(
RFLP
)
using
samples
from
both
populations
and
from
multi-national
archival
DNA
and
paraffin-embedded
samples
of
OC
.
In
OC
and
OSF
samples
,
80
chromosomal
regions
(
harboring
349
genes
)
were
found
as
deleted
or
amplified
.
Out
of
the
349
genes
,
34
(
including
several
S
100
gene
family
members
)
were
found
to
be
deleted
and
30
(
containing
NOTCH
4
,
TP
53
and
ERBB
2
)
were
found
as
amplified
in
OSF
and
OC
cases
.
285
genes
(
including
TP
53
,
ERBB
2
and
BRCA
1
)
were
found
either
as
deleted
in
one
population
or
amplified
in
the
other
.
Few
chromosomal
alterations
were
found
to
be
exclusive
to
either
OC
or
OSF
samples
alone
.
IHC
demonstrated
down-regulation
and
transfer
of
S
100
A
14
protein
expression
from
membrane
to
cytoplasmic
.
RFLP
showed
differential
distribution
between
Asian
samples
compared
to
African
and
Western
samples
at
461
G
>
A
SNP
.
T
he
present
study
provides
findings
on
chromosomal
aberrations
likely
to
be
involved
in
pathogenesis
of
OC
and
OSF
.
Findings
of
chromosomal
changes
harboring
genes
previously
found
in
OC
examined
from
Western
,
African
and
Asian
populations
demonstrate
the
importance
of
these
changes
in
development
of
OC
,
and
the
existence
of
common
gene
-
specific
amplifications
/
deletions
,
regardless
of
source
of
samples
or
attributed
risk
factors
.
We
report
a
down-regulation
of
S
100
A
14
expression
to
be
a
significant
marker
in
association
with
loss
of
1
q
21
in
70
%
of
OC
samples
.
Diseases
Validation
Diseases presenting
"oral cancer"
symptom
kallmann syndrome
oral submucous fibrosis
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