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Risk of Cancer
with BRCA1 and
BRCA2 Mutations
Mutations in BRCA1 and BRCA2 lead to
markedly increased lifetime risks for breast and
ovarian cancer. Although the exact level of risk
can vary among and within families, the current
estimates of cancer risk for individuals who are
positive for mutations in BRCA1 and BRCA2 are:
For BRCA1
• O varian-cancer
risk up to 21% by age 50,
up to 54% by age 80
• B reast-cancer
risk (in women) up to 39% by age 50,
up to 81% by age 80
• S econd
primary breast-cancer risk (in women)
between 40% to 64% by age 70; up to 20% risk
of a second primary breast cancer within five years
of the first
For BRCA2
• O varian-cancer
risk up to 2% by age 50,
up to 27% by age 80
• B reast-cancer
risk (in women) up to 34% by age 50,
up to 85% by age 80
• B reast-cancer
risk (in men) up to 7% by age 80
• S econd
breast-cancer risk in women up to 50% by
age 70, up to 12% risk of a primary breast cancer
within five years of the first
Either parent can pass on
BRCA1 or BRCA2 mutations
Mutations in the BRCA1 and BRCA2 genes
are inherited in autosomal dominant fashion —
offspring and siblings of known mutation
carriers have a 50% chance of also having
a mutation. Both male and female carriers
of BRCA1 and BRCA2 mutations may pass
these on to their offspring.
Father with
hereditary BRCA1 or
BRCA2 mutation
Bb Bb
Bb bb
bb bb
50% chance of inheriting mutation
regardless of child’s gender
With New Device, Aortic-Valve
Replacement Now Available to
Inoperable and High-Risk Patients
A new procedure, transcatheter aortic-valve
replacement (TAVR), enables doctors to
replace damaged heart valves of patients
who otherwise might not be candidates for
open-heart surgery. TAVR allows doctors
for the first time to replace the aortic
valve in patients with aortic stenosis —
narrowing of the aortic valve — without
making an incision in the chest wall or
requiring cardiopulmonary bypass.
Aortic stenosis occurs when calcium
builds up over time on the leaflets of the
aortic valve and causes them to stiffen
and narrow. Calcification prevents the
valve from opening fully and causes the
heart to work harder to pump blood to
the body. The most severe symptoms may
include chest pain, shortness of breath,
fatigue, fainting, irregular heartbeat or
swollen ankles and feet. Left untreated,
symptomatic patients are at higher risk
for heart failure and death.
“Most people never notice any symptoms
from aortic stenosis until it becomes
severe,” says William Suh, MD, UCLA
interventional cardiologist. “Unfortunately,
once symptoms develop, survival rates drop
significantly, so it is important to intervene
quickly once symptoms appear.”
to the aorta and then expanded to replace
the damaged native valve.
“In patients who are suitable candidates,
the benefits are immediate,” Dr. Suh says.
“Patients feel better, experience improved
blood circulation and are at reduced
risk for mortality compared to patients
undergoing medical therapy.” Patients also
recover faster and experience less pain and
scarring compared to surgical aortic-valve
replacement. However, there are some
downsides to TAVR. Disadvantages include
increased risk for paravalvular leak (a small
gap between the native valve and the stent
valve that allows blood to leak from the
aorta to the heart and can lead to heart
failure) and a slightly increased risk for
stroke and bleeding complications.
“Some older patients may have concerns
about undergoing surgery, but no patient
is too old to be considered for this
procedure,” says Dr. Suh. “TAVR can
be performed safely and saves lives in
appropriate patients.” UCLA was one of
the first centers to offer TAVR following
approval of the device by the Food and
Drug Administration.
Open-heart valve replacement surgery is
the standard treatment for aortic stenosis.
However, many patients — particularly
those who are older — are not candidates
for open-valve replacement surgery
because they have health conditions such
as pulmonary disease, vascular disease,
arrhythmias or previous surgeries that
place them at higher risk for complications
from open-heart surgery. For these patients,
TAVR is an attractive alternative to surgery
that has been shown to improve both
survival and quality of life.
During TAVR, a metal stent with hand-
sewn biologic leaflets is inserted via catheter
through a small incision in the leg. The new
valve is guided through the femoral artery
For more information about
UCLA’s Transcatheter Aortic-Valve
Replacement (TAVR) Program, go to:
uclahealth.org/tavr Vital Signs Fall 2013 Vol. 60
7