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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
"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
