It is also possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test used. It is important that people considering genetic testing for BRCA1 and BRCA2 mutations discuss these potential uncertainties with a genetic counselor before undergoing testing. Ambiguous or uncertain result. As more research is conducted and more people are tested for BRCA1 and BRCA2 mutations, scientists will learn more about these changes and cancer risk.
Over time, additional studies of variants of uncertain significance may result in a specific mutation being reclassified as either clearly harmful or clearly not harmful. These include enhanced screening , prophylactic risk-reducing surgery, and chemoprevention. Enhanced Screening.
For example, some experts recommend that women who carry a harmful BRCA1 or BRCA2 mutation undergo clinical breast examinations beginning at age 25 to 35 years And some expert groups recommend that women who carry such a mutation have a mammogram every year, beginning at age 25 to 35 years. Enhanced screening may increase the chance of detecting breast cancer at an early stage , when it may have a better chance of being treated successfully. Studies have shown that MRI may be better able than mammography to find tumors, particularly in younger women at high risk of breast cancer 18 , However, mammography can also identify some breast cancers that are not identified by MRI Also, MRI may be less specific that is, lead to more false-positive results than mammography.
Several organizations, such as the American Cancer Society and the National Comprehensive Cancer Network, now recommend annual screening with both mammography and MRI for women who have a high risk of breast cancer. Women who test positive for a BRCA1 or BRCA2 mutation should ask their health care provider about the possible harms of diagnostic tests that involve radiation mammograms or x-rays. No effective ovarian cancer screening methods currently exist. Some groups recommend transvaginal ultrasound , blood tests for the antigen CA , and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 mutations, but none of these methods appears to detect ovarian tumors at an early enough stage to reduce the risk of dying from ovarian cancer For a screening method to be considered effective, it must have demonstrated reduced mortality from the disease of interest.
This standard has not yet been met for ovarian cancer screening. The benefits of screening for breast and other cancers in men who carry harmful mutations in BRCA1 or BRCA2 are also not known, but some expert groups recommend that men who are known to carry a harmful mutation undergo regular breast exams as well as testing for prostate cancer. Prophylactic Risk-reducing Surgery. Prophylactic surgery involves removing as much of the "at-risk" tissue as possible.
Women may choose to have both breasts removed bilateral prophylactic mastectomy to reduce their risk of breast cancer. Surgery to remove a woman's ovaries and fallopian tubes bilateral prophylactic salpingo-oophorectomy can help reduce her risk of ovarian cancer. Ovarian cancers often originate in the fallopian tubes, so it is essential that they be removed along with the ovaries.
Removing the ovaries may also reduce the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some types of breast cancer. Therefore, bilateral prophylactic mastectomy for men at high risk of breast cancer is considered an experimental procedure, and insurance companies will not normally cover it.
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Prophylactic surgery does not guarantee that cancer will not develop because not all at-risk tissue can be removed by these procedures. Nevertheless, these surgical procedures confer substantial benefits.
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The reduction in breast and ovarian cancer risk from removal of the ovaries and fallopian tubes appears to be similar for carriers of BRCA1 and BRCA2 mutations Chemoprevention is the use of medicines to try to reduce the risk of cancer. Although two chemopreventive drugs tamoxifen and raloxifene have been approved by the U. Data from three studies suggest that tamoxifen may be able to help lower the risk of breast cancer in women who carry harmful mutations in BRCA2 24 , as well as the risk of cancer in the opposite breast among BRCA1 and BRCA2 mutation carriers previously diagnosed with breast cancer 25 , There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.
The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one's children are not at risk of inheriting the family's cancer susceptibility, and the possibility that special checkups, tests, or preventive surgeries may not be needed. A positive test result may bring relief by resolving uncertainty regarding future cancer risk and may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk. In addition, people who have a positive test result may choose to participate in medical research that could, in the long run, help reduce deaths from hereditary breast and ovarian cancer.
People who receive a positive test result may feel anxious, depressed, or angry, particularly immediately after they learn the result. People who learn that they carry a BRCA mutation may have difficulty making choices about whether to have preventive surgery or about which surgery to have. Because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families. Test results can also affect personal life choices, such as decisions about career, marriage, and childbearing.
Violations of privacy and of the confidentiality of genetic test results are additional potential risks. Moreover, the federal Genetic Information Nondiscrimination Act, along with many state laws, prohibits discrimination based on genetic information in relation to health insurance and employment, although it does not cover life insurance, disability insurance, or long-term care insurance.
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Finally, there is a small chance that test results may not be accurate, leading people to make medical decisions based on incorrect information. Although it is rare that results are inaccurate, people with these concerns should address them during genetic counseling. Some studies have investigated whether there are clinical differences between breast and ovarian cancers that are associated with harmful BRCA1 or BRCA2 mutations and cancers that are not associated with these mutations.
These other genes include several that are associated with the inherited disorders Cowden syndrome , Peutz-Jeghers syndrome , Li-Fraumeni syndrome , and Fanconi anemia , which increase the risk of many cancer types. Recently, mutations in other genes that increase breast and ovarian cancer risk have been identified.
Genetic testing for these other mutations is available as part of multigene panel testing. However, expert groups have not yet developed specific guidelines for who should be tested, or for the management of breast or ovarian cancer risk in people with these other high-risk mutations. Menu Contact Dictionary Search.
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Genetic testing is most useful if first performed on someone in your family who has had breast or ovarian cancer. The genetic counselor can discuss the pros and cons of testing and what possible test results could mean for you and your family. It is important to note that genetic testing for BRCA mutations will not find all causes of hereditary breast or ovarian cancer.
In some cases, the genetic counselor might recommend genetic testing using a panel that looks for mutations in several genes in addition to BRCA1 and BRCA2. BRCA genetic counseling and testing is often, but not always, covered without cost sharing by many health plans under the Affordable Care Act. Skip directly to site content Skip directly to page options Skip directly to A-Z link. Hereditary Breast and Ovarian Cancer. Section Navigation. Minus Related Pages.
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But, important steps can be taken to help lower the risk for cancer in these women. Breast Cancer Risk Women in the U. About 93 out of of these women will NOT get breast cancer by age About 50 out of of these women will NOT get breast cancer by age These make your risk of breast cancer higher.
This is the main risk factor for breast cancer. Men can get breast cancer, too, but this disease is much more common in women than in men.