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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
"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