Breast Cancer Survivors
About 10% of breast cancer is due to a hereditary change such as a BRCA mutation. Sometimes, either because of a family history of cancer or because of particular traits of the cancer itself, a diagnosis of breast cancer may suggest that the cancer is hereditary. In these circumstances an appointment with an expert, such as a geneticist or a genetic counselor, is recommended. Hereditary breast cancer and sporadic breast cancer are similar in some ways, but there are also significant differences. Learning that breast cancer is hereditary may change treatment or follow-up recommendations for breast cancer. Also, if a cancer survivor is the first person to have a genetic test in a family, his/her test result may help identify the cause of hereditary cancer in this family. This information can help other family members make decisions about genetic counseling and testing.
Breast cancer survivors with a BRCA mutation or hereditary breast cancer have a higher likelihood of developing a second breast cancer than women with sporadic breast cancer. This occurrence of a second breast cancer is considered a new "primary cancer.” This is different from a "recurrence" of the original breast cancer. Breast cancer survivors with a BRCA mutation also have a higher risk for ovarian cancer. Options for risk management in cancer survivors are similar to option for cancer previvors who have never been diagnosed.
Women with a BRCA mutation or other hereditary breast cancer who choose breast conservation to treat their breast cancer are at higher risk for another cancer in either breast than women with sporadic breast cancer. Although the exact risk depends on a woman’s age and other factors, one study found that BRCA carriers diagnosed with breast cancer have a 14% chance within ten years of developing the disease in the same breast, and a 37% chance within ten years of developing the disease in the opposite breast. Another study found a 40% chance for BRCA carriers to develop cancer in the opposite breast within ten years of their initial diagnosis. The risk for a second breast cancer among women who develop sporadic cancer is about 10%.
Breast cancer survivors with a hereditary form of breast cancer have options for managing their risks for a second primary breast cancer. The most appropriate options depend on many considerations. In general there are three categories of risk management options which are discussed in more detail in their respective sections.
- chemoprevention for breast cancer
- surveillance for breast cancer
- Prophylactic (risk-reducing) surgery
It is important to remember that none of the risk-management options will eliminate all cancer risk. Some risk always remains, even with the surgical options.
Breast cancer survivors who have a BRCA mutation or hereditary breast cancer are at higher risk for ovarian cancer than breast cancer survivors with sporadic breast cancer. A research study on ovarian cancer risk in breast cancer survivors with a BRCA mutation found a 12.7% risk in BRCA 1 carriers and 6.8% risk in BRCA 2 carriers within 10 years of the breast cancer diagnosis. The same study also concluded that BRCA mutation carriers with early-stage breast cancer benefit from prophylactic oophorectomy.
Women who undergo oophorectomy prior to natural menopause will experience menopause as a result of the surgery. Menopausal symptoms vary from woman to woman and some of the consequences of menopause are more serious than others. For more information on surgical menopause, please visit our section on this topic.
Not all breast cancer survivors who carry a BRCA mutation choose prophylactic surgery. Women who are still in treatment for breast cancer, those who are concerned about early menopause, and women who are considering having children after breast cancer have options other than oophorectomy. The options include:
Women with a family history of breast and ovarian cancer but no identified BRCA mutation have an elevated risk of ovarian cancer after breast cancer, but the exact risk is unknown. For those women with breast cancer who have a family history of breast cancer only, (no ovarian cancer in the family) but no known mutation, the risk for ovarian cancer may not be elevated above the risk for the general population. One study on women from families with an extensive history of breast cancer but without a BRCA mutation found the risk for ovarian cancer was no higher than for women in the general population.
Risk management decisions are highly personal. If you are at high risk for ovarian cancer, you need a clear sense of your own personal risk and an understanding of the potential benefits, risks, and side effects of each risk management option. Genetic experts can help breast cancer survivors who have a BRCA mutation, a family history of cancer, or other indicators of hereditary cancer determine their risk for ovarian cancer and develop a risk management plan. Continue to keep in touch with a genetics expert for updates on current knowledge.
Hereditary breast cancer may differ from sporadic breast cancer in ways that could effect treatment options. Therefore genetic counseling and testing are often recommended soon after diagnosis if it is believed that the results may effect treatment decisions. In the United States, BRCA results are usually available in three to five weeks. Under certain circumstances—particularly for individuals newly diagnosed with cancer, for whom test results may affect treatment choices—the test can be run more quickly for an additional cost.
Some possible treatment decisions that may be influenced by genetic test results include:
- lumpectomy and radiation vs. mastectomy
- Research has shown that, under certain circumstances, lumpectomy followed by radiation is as effective as mastectomy for treating breast cancer. In women with BRCA mutations or hereditary breast cancer, however, there is an elevated risk for a second primary cancer in the same or the opposite breast. Because of this risk for a second cancer, some women who are diagnosed with hereditary breast cancer choose bilateral mastectomy (surgical removal of both breasts) rather than undergoing lumpectomy and radiation. Studies have shown similar survival rates for women with BRCA mutations who undergo lumpectomy and radiation and women who undergo mastectomy. However, mutation carriers who undergo mastectomy are less likely to develop a second breast cancer.
- oophorectomy vs. medication to induce menopause
- BRCA carriers are at increased risk for ovarian cancer. In women with estrogen receptor-positive breast cancer, treatment often involves injections to shut down the ovaries' production of estrogen. For BRCA carriers who are at increased risk for ovarian cancer, another option may be oophorectomy, which removes the ovaries to lower the risk for ovarian cancer. Further, oophorectomy has also been shown to lower the risk for primary breast cancers in BRCA carriers who do not have bilateral mastectomies. One very small observational study showed a lower recurrence rate in BRCA 1 mutation carriers who had oophorectomy within 6 months of their breast cancer diagnosis compared with those who retained their ovaries. Another study showed that a quarter of early stage breast cancer survivors with a BRCA mutation later develop ovarian cancer if they do not remove their ovaries.
- Tamoxifen, aromatase inhibitors or other hormonal therapies
- Tamoxifen is a treatment used for estrogen receptor-positive breast cancer. Studies of BRCA carriers who were diagnosed with cancer in one breast and took tamoxifen demonstrated a reduced risk for breast cancer in the other breast. One such study showed tamoxifen lowered the risk for a new breast cancer in the other breast by about 40% in women with BRCA 1 mutations and by about 25% in women with BRCA 2 mutations. Tamoxifen may also protect bone density and reduce osteoporosis risk in postmenopausal women who cannot take hormone replacement. Not all experts agree that tamoxifen is appropriate for preventing a second breast cancer in women with BRCA1 mutations. For more information, see our section on tamoxifen.
- Aromatase inhibitors are medications that are prescribed for some post-menopausal women to reduce estrogen production by their fat cells and adrenal cells. These drugs are used for preventing breast cancer recurrence in women with cancers that are estrogen or hormone-receptor positive. One study found that an aromatase inhibitor known as anastrozole reduced breast cancer survivors' risk developing a new cancer in the other breast by 58 percent. This study did not look specifically at women with BRCA mutations, so the benefits of these medications to prevent breast cancer in BRCA carriers is not certain. For more information, see our section on aromatase inhibitors
As new research continues, treatments specifically targeting hereditary cancers may become available. Some studies have suggested that BRCA-associated cancers may respond more favorably to certain chemotherapies. A study looking at breast cancer cells grown in tissue cultures demonstrated that a functioning BRCA 1 gene is necessary for response to Taxol chemotherapy and suggests that women with BRCA 1 mutations and breast cancer may not respond as well to these agents as women with sporadic cancer. However, this research is preliminary and has not been tested in clinical trials with breast cancer patients.
A new class of medications called "PARP Inhibitors" may specifically kill hereditary cancer cells caused by a BRCA mutation and spare healthy cells. A preliminary study on breast cancer cells in mice has been encouraging, killing cells that model the BRCA breast cancer cells and eliminating tumors. Research using PARP inhibitors for BRCA-associated cancer in women with metastatic breast cancer has begun in the United Kingdom. Phase II clinical trials are available for women with metastatic (stage IV) breast cancer who are BRCA positive and who have already undergone standard chemotherapy for their disease. See our clinical trials page for information on PARP inhibitor studies.
Confronting breast cancer diagnosis or treatment can be confusing and frightening. If you are a breast cancer survivor, sometimes it helps to speak with other women who have faced similar circumstances. Learn more about talking with other breast cancer survivors in our Pre-vivors & Survivors support section.
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