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A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
[cowden syndrome]
An
early
age
at
Breast
Cancer
(
BC
)
onset
may
be
a
hallmark
of
inherited
predisposition
,
but
BRCA
1
/
2
mutations
are
only
found
in
a
minority
of
younger
BC
patients
.
Among
the
others
,
a
fraction
may
carry
mutations
in
rarer
BC
genes
,
such
as
TP
53
,
STK
11
,
CDH
1
and
PTEN
.
As
the
identification
of
women
harboring
such
mutations
allows
for
targeted
risk-management
,
the
knowledge
of
associated
manifestations
and
an
accurate
clinical
and
family
history
evaluation
are
warranted
.
We
describe
the
case
of
a
woman
who
developed
an
infiltrating
ductal
carcinoma
of
the
right
breast
at
the
age
of
32
,
a
contralateral
BC
at
age
36
and
another
BC
of
the
right
breast
at
40
.
When
she
was
39
years
-old
,
during
a
dermatological
examination
,
mucocutaneous
features
suggestive
of
Cowden
Syndrome
,
a
disorder
associated
to
germ-line
PTEN
mutations
,
were
noticed
.
PTEN
genetic
testing
revealed
the
novel
c
.
71
A
>
T
(
p
.
Asp
24
V
al
)
mutation
,
whose
deleterious
effect
,
suggested
by
conservation
data
and
in
silico
tools
,
was
definitely
demonstrated
by
the
incapacity
of
mutant
PTEN
to
inhibit
Akt
phosphorylation
when
used
to
complement
PTEN
-null
cells
.
In
BC
tissue
,
despite
the
absence
of
LOH
or
somatic
mutations
of
PTEN
,
Akt
phosphorylation
was
markedly
increased
in
comparison
to
normal
tissue
,
thus
implying
additional
somatic
events
into
the
deregulation
of
the
PI
3
K
/
Akt
/
mTOR
pathway
and
,
presumably
,
into
carcinogenesis
.
Hence
,
known
oncogenic
mutations
in
PIK
3
CA
(
exons
10
and
21
)
and
AKT
1
(
exon
2
)
were
screened
in
tumor
DNA
with
negative
results
,
which
suggests
that
the
responsible
somatic
event
(
s
)
is
a
different
,
uncommon
one
.
This
case
stresses
the
importance
of
clinical
/
genetic
assessment
of
early
-onset
BC
patients
in
order
to
identify
mutation
carriers
,
who
are
at
high
risk
of
new
events
,
so
requiring
tailored
management
.
Moreover
,
it
revealed
a
novel
PTEN
mutation
with
pathogenic
effect
,
pointing
out
,
however
,
the
need
for
further
efforts
to
elucidate
the
molecular
steps
of
PTEN
-associated
carcinogenesis
.
Diseases
Validation
Diseases presenting
"early age"
symptom
achondroplasia
aniridia
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
junctional epidermolysis bullosa
kabuki syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
papillon-lefèvre syndrome
primary hyperoxaluria type 1
severe combined immunodeficiency
werner syndrome
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