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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: Vital Signs Fall 2013 Vol. 60 7