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Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
[cowden syndrome]
Cowden
syndrome
(
CS
)
is
a
difficult-
to
-recognize
multiple
hamartoma
syndrome
with
high
risks
of
breast
,
thyroid
,
and
other
cancers
.
Germline
mutations
in
PTEN
on
10
q
23
were
found
to
cause
85
%
of
CS
when
accrued
from
tertiary
academic
centers
,
but
prospective
accrual
from
the
community
over
the
last
12
years
has
revealed
a
25
%
PTEN
mutation
frequency
.
PTEN
is
the
phosphatase
that
has
been
implicated
in
a
heritable
cancer
syndrome
and
subsequently
in
multiple
sporadic
cancers
and
developmental
processes
.
PTEN
antagonizes
the
AKT
1
/
PI
3
K
signaling
pathway
and
has
roles
in
cell
cycle
,
migration
,
cell
polarity
,
and
apoptosis
.
We
report
that
8
of
91
(
8
.
8
%
)
unrelated
CS
individuals
without
germline
PTEN
mutations
carried
10
germline
PIK
3
CA
mutations
(
7
missense
,
1
nonsense
,
and
2
indels
)
and
2
(
2
.
2
%
)
AKT
1
mutations
.
These
mutations
result
in
significantly
increased
P-Thr
308
-
AKT
and
increased
cellular
PIP
3
.
Our
observations
suggest
that
PIK
3
CA
and
AKT
1
are
CS
susceptibility
genes
.