Rare Diseases Symptoms Automatic Extraction
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Hereditary breast cancer: the era of new susceptibility genes.
[cowden syndrome]
Breast
cancer
is
the
most
common
malignancy
among
females
.
5
%
-
10
%
of
breast
cancer
cases
are
hereditary
and
are
caused
by
pathogenic
mutations
in
the
considered
reference
BRCA
1
and
BRCA
2
genes
.
As
sequencing
technologies
evolve
,
more
susceptible
genes
have
been
discovered
and
BRCA
1
and
BRCA
2
predisposition
seems
to
be
only
a
part
of
the
story
.
These
new
findings
include
rare
germline
mutations
in
other
high
penetrant
genes
,
the
most
important
of
which
include
TP
53
mutations
in
Li-
Fraumeni
syndrome
,
STK
11
mutations
in
Peutz-
Jeghers
syndrome
,
and
PTEN
mutations
in
Cowden
syndrome
.
Furthermore
,
more
frequent
,
but
less
penetrant
,
mutations
have
been
identified
in
families
with
breast
cancer
clustering
,
in
moderate
or
low
penetrant
genes
,
such
as
CHEK
2
,
ATM
,
PALB
2
,
and
BRIP
1
.
This
paper
will
summarize
all
current
data
on
new
findings
in
breast
cancer
susceptibility
genes
.
Diseases
Validation
Diseases presenting
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated