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Statement on risk assessment for inherited gynecologic cancer predispositions.
[cowden syndrome]
Women
with
germline
mutations
in
the
cancer
susceptibility
genes
,
BRCA
1
or
BRCA
2
,
associated
with
Hereditary
Breast
&
Ovarian
Cancer
syndrome
,
have
up
to
an
85
%
lifetime
risk
of
breast
cancer
and
up
to
a
46
%
lifetime
risk
of
ovarian
,
tubal
,
and
peritoneal
cancers
.
Similarly
,
women
with
mutations
in
the
DNA
mismatch
repair
genes
,
MLH
1
,
MSH
2
,
MSH
6
,
or
PMS
2
,
associated
with
the
Lynch
/
Hereditary
Non-
Polyposis
Colorectal
Cancer
(
HNPCC
)
syndrome
,
have
up
to
a
40
-
60
%
lifetime
risk
of
both
endometrial
and
colorectal
cancers
as
well
as
a
9
-
12
%
lifetime
risk
of
ovarian
cancer
.
Mutations
in
other
genes
including
TP
53
,
PTEN
,
and
STK
11
are
responsible
for
hereditary
syndromes
associated
with
gynecologic
,
breast
,
and
other
cancers
.
Evaluation
of
the
likelihood
of
a
patient
having
one
of
these
gynecologic
cancer
predisposition
syndromes
enables
physicians
to
provide
individualized
assessments
of
cancer
risk
,
as
well
as
the
opportunity
to
provide
tailored
screening
and
prevention
strategies
such
as
surveillance
,
chemoprevention
,
and
prophylactic
surgery
that
may
reduce
the
morbidity
and
mortality
associated
with
these
syndromes
.
Evaluation
for
the
presence
of
a
hereditary
cancer
syndrome
is
a
process
that
includes
assessment
of
clinical
and
tumor
characteristics
,
education
and
counseling
conducted
by
a
provider
with
expertise
in
cancer
genetics
,
and
may
include
genetic
testing
after
appropriate
consent
is
obtained
.
This
commentary
provides
guidance
on
identification
of
patients
who
may
benefit
from
assessment
for
the
presence
of
a
hereditary
breast
and
/
or
gynecologic
cancer
syndrome
.
Diseases
Validation
Diseases presenting
"ovarian cancer"
symptom
cowden syndrome
esophageal adenocarcinoma
esophageal squamous cell carcinoma
hereditary cerebral hemorrhage with amyloidosis
liposarcoma
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