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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
"rare germline mutations"
symptom
cowden syndrome
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