Heart Disease in BRCA Mutation Carriers


While managing cancer risk is a priority, BRCA mutation carriers are often concerned about their risk of heart disease-the leading cause of death for American women-and how their mutation or risk-management choices may impact their cardiovascular health.

While managing cancer risk is a priority, BRCA mutation carriers are often concerned about their risk of heart disease—the leading cause of death for American women—and how their mutation or risk-management choices may impact their cardiovascular health.

Although much of the risk for cardiovascular disease comes from lifestyle and genetic factors unrelated to BRCA mutations, some breast cancer treatments (including certain chemotherapies and medications like trastuzumab) also raise risk. It is unclear whether early menopause contributes to an increased chance of heart disease.

Some early research also suggests that BRCA genes may be important in repairing damage to heart cells, leading to speculation that women with mutations, even those who do not receive chemotherapy or undergo early surgical menopause, may be have elevated likelihood for heart disease. A recent paper reviewing these risks called for more research into the chance of heart disease in BRCA mutation carriers.

Risk of heart disease associated with surgical menopause

Risk-reducing salpingo-oophorectomy (RRSO) increases survival of BRCA mutation carriers. Experts recommend RRSO for women with BRCA mutations: around age 35 for BRCA1 mutation carriers and around age 40 for BRCA2 mutation carriers, after completion of childbearing. How does this affect their risk of heart disease? Several studies suggest but have not proven that a woman’s risk of heart disease increases after menopause. Complicating matters further, surgical menopause may affect body mass index, blood lipid profiles, and other risk factors for cardiovascular disease. Women in surgical menopause should consult with their healthcare professional about how they can manage their risk of heart disease.

Research demonstrates that women with BRCA mutations who remove their ovaries survive longer than women with mutations who do not. So, despite concerns about a potentially increased risk of heart disease associated with early menopause, women with BRCA mutations are strongly advised to remove their ovaries.

Risk of heart disease associated with chemotherapy

Some experts question whether BRCA mutation carriers may be more sensitive to numerous breast cancer chemotherapy drugs that are known to increase the short- and long-term risks of cardiovascular disease in the general population. Further research is needed to learn whether BRCA mutation carriers who receive chemotherapy are at higher lifetime risk of heart disease and to identify the best chemotherapy regimen for mutation carriers diagnosed with cancer.

Are all BRCA mutation carriers at increased risk of heart disease?

Whether or not BRCA mutations alone affect cardiovascular health is still unknown. BRCA and other hereditary breast and ovarian cancer—related genes help to repair DNA damage, keeping cells healthy and protecting them from cancer. Some experts believe that these genes may also protect organs such as the heart from damage. Studies of mice show that BRCA gene changes may be associated with higher mortality after heart attacks. The results must be confirmed in humans before we know if BRCA mutation carriers are at an increased risk of heart disease.

Making healthy lifestyle choices reduces the risk of heart disease. Whether you have a BRCA mutation or not, it is wise to stop smoking, maintain a healthy body weight, engage in a regular exercise program, know your family history of heart disease, and speak with a healthcare provider about monitoring cardiovascular health.

FORCE is the only national nonprofit organization devoted to individuals and families affected by hereditary breast, ovarian, and related cancers. For more information, please visit www.facingourrisk.org.


Arts-de Jong M, Mass AH, Massuger LF, et al. BRCA1/2 mutation carriers are potentially at higher cardiovascular risk. Crit Rev Oncol Hematol. 2014;91(2):1

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