Frequently Asked Questions
Cancer is a complicated disease. And hereditary cancers are different than other cancers. Many articles about cancer are not focused on hereditary cancers. It can be confusing determining which facts apply to you. We will be posting and answering Frequently Asked Questions about topics related to hereditary breast and ovarian cancer. Check back frequently for more questions and answers.
Below is the list of questions, you can click on each to read the answers or scroll down to review the entire list.
- What is hereditary cancer?
- How are hereditary cancers different from sporadic cancer?
- I have read articles that mammograms and breast self-exams (BSE) do not save lives, yet my health care team recommended both. Should I continue BSE and having screening mammograms?
- What are the similarities and differences between BRCA1 and BRCA2 mutations?
- How common is a BRCA mutation in the general population?
- How many people have undergone BRCA testing and how many people are still unaware of their BRCA status?
- Can someone inherit mutations in both genes? If so, what are their risks for cancer?
- My doctor recommended that I have BRCA genetic testing. I'm not sure that I want to have genetic testing, but I do want to understand more about the cancer in my family. If I do decide to have testing, how can I go about getting the test?
Q. What is hereditary cancer? How is it different from sporadic cancer?
Cancer is a common disease, so most families will have some members who have had cancer. Hereditary cancers occur when a person is born with changes or mutations in certain genes which normally protect against cancer. In the majority of these cases, the changes were inherited from the mother or father. These changes can increase the risk for cancers in different parts of the body. The changes do not increase the risk for every type of cancer and not everyone who is born with a gene change will develop cancer. These inherited gene changes can be passed down to children, with a 50% chance to pass them to each child. The main hereditary breast cancer gene changes—caused by mutations in the BRCA1 or BRCA2 genes—are also associated with an increased risk for ovarian, fallopian tube, and other cancers. Other cancer syndromes can be associated with other types of cancers.
We don’t know the cause of most cancer, but we do know that most cancer is not due to a single inherited change in one gene. Cancer that is not due to an obvious inherited pattern is called “sporadic cancer.” Experts believe that most cancers are sporadic. So even if cancer does not run in your family, you and your relatives can still be at risk for some type of cancer.
- Hereditary cancer tends to occur at an earlier age than the sporadic form of the same cancer, so screening and risk-lowering recommendations for hereditary cancer may be different and may begin at an earlier age
- Hereditary gene changes and the accompanying increased risk for cancer can be shared by relatives and passed on to children.
- People with hereditary cancer have a higher risk for more than one type of cancer. In people who have already been diagnosed with a cancer, this may affect their cancer treatment or follow-up care.
- Specific screening or risk-lowering options are recommended for people at high risk for certain types of hereditary cancer.
Note: If you believe that breast or ovarian cancer runs in your family, you should contact a cancer genetic counselor, geneticist, or equally-qualified health care provider. These health care professionals can help determine your risk for hereditary cancer, inform you of available genetic tests and their benefits and limitations, order appropriate genetic tests, assist with insurance reimbursement of tests, and interpret the test results.
There are several ways to contact a qualified genetics expert. Visit our page on genetic counseling for more information. You can ask general questions of a board-certified genetic counselor by calling our "Ask-A-Counselor" feature on our toll-free helpline at:
866-288-7475, ext 704
If you leave a message, a board-certified genetic counselor will call back within 2 working days.
The National Comprehensive Cancer Network (NCCN) includes a panel of experts who develop consensus guidelines on hereditary cancer risk and management. Many health care providers consider these guidelines to be standard-of-care. Currently NCCN guidelines recommend the following breast screening protocol for women with a BRCA mutation:
- Breast self-exam training and education, and regular monthly BSE starting at age 18;
- Semiannual clinical breast exam starting at age 25;
- Annual mammogram and breast MRI screening starting at age 25, or individualized, based on earliest age of onset in family.
Although there is not yet enough research to show that breast screening in high-risk women saves lives, there is data to support that it can find cancer at an earlier stage when it is more easily treated. In fact, mammograms are particularly good at detecting a type of early-stage breast cancer known as Ductal Carcinoma In Situ (DCIS), which is most often curable with surgery alone. Researchers at Duke University Cancer Center found that teaching and encouraging high-risk women to perform BSE led to the discovery of new cancers in women who were undergoing MRI and mammogram. In studies of women with hereditary breast cancer risk, some cancers are still missed by regular mammograms and breast MRI. Self-examination seems the best way to keep watch between imaging studies. Emerging research shows that MRI can detect more breast cancers in high-risk women than either mammograms or breast self-exams, however, combining all of the above recommended screening is recommended because of the high risk for breast cancer in our community and because MRI still misses some cancers detected by mammogram and self-exam. Because of the concern of radiation exposure for young women, experts in hereditary cancer are exploring the benefits vs. risks of mammograms in high-risk women age 25 – 30. You can read more about this research in our Fall 2009 newsletter.
A. When working properly, both BRCA genes help to keep our bodies healthy by repairing cellular damage that accumulates throughout life from many different influences. Mutations in either BRCA1 or BRCA2 can be passed from parent to child and can cause cancer to run in families. As research unfolds, we are learning more about these two genes, how they affect cancer risk, the types of cancer they cause, and how effective treatment and prevention may be for each.
- These mutations lead to increased risks for breast, ovarian, fallopian tube, and primary peritoneal cancer; these risks are much higher than risks for people in the general population.
- Lifetime risks for breast cancer are similar for both mutations
- BRCA1 and BRCA2 risk is estimated to be 50-85%
- The average age at cancer diagnosis for people with either mutation is earlier than in peoplein the general population.
- Lifetime risks for ovarian/fallopian tube cancers are different for people with a BRCA1 vs. BRCA2 mutation
- BRCA1 risk is estimated to be 40-60%
- BRCA2 risk is estimated to be 10-20%.
- People with either BRCA mutation may also have an increased risk for the following cancers (although not as high as for breast/ovarian cancer):
- Pancreatic cancer
- Prostate cancer
- Male breast cancer
- Although both mutations are associated with an increased risk for the above cancers compared to the general population, BRCA2 mutations are linked to a higher lifetime risk for all three cancers compared to BRCA1 mutations. Prostate cancers do not occur at younger ages, but are often more aggressive. The risk of pancreatic cancer is no more than 5% in BRCA2 mutation carriers, but more research is needed to identify which BRCA mutation carriers are at elevated pancreatic cancer risk.
- BRCA2 mutations are also associated with elevated risk for melanoma, which has not been shown for BRCA1 mutation
Types of breast cancer
- BRCA1 mutations are most commonly associated with a type of breast cancer that does not express estrogen or progesterone receptors and does not overexpress a protein called “Her2neu.” This “triple-negative” breast cancer is usually treated with chemotherapy, and not with hormonal medications or drugs like Herceptin that target the HER2 protein.
- BRCA2 mutations are most commonly associated with a type of breast cancer that expresses estrogen and progesterone receptors and does not overexpress the Her2neu protein. These cancers are often treated with drugs that block or interfere with hormones. Some may also required chemotherapy.
Risk management differences
- Salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is recommended for women with a BRCA1 or BRCA2 mutation. This surgery substantially lowers the risk for ovarian and fallopian tube cancer. When performed before menopause, the surgery also lowers the risk for breast cancer: the resulting reduction in may be greater for women with a BRCA2 mutation than those who have a BRCA1 mutation. Read more about the research that came to this conclusion in our Joining FORCEs Spring 2008 newsletter (pdf).
- Tamoxifen and Raloxifene are Selective Estrogen Receptor Modulators (SERMS), medications that are used to lower the risk for breast cancer in high risk women. There have been some studies on SERMs in women with BRCA mutations, and they have been shown to reduce breast cancer risk, but information is limited.
A. Experts estimate that 1 out of every 500 people carries a BRCA mutation. BRCA mutations are more common in people of certain ethnic backgrounds, however, mutations have been found in people of every ethnicity. Experts believe that among people of Ashkenazi (Eastern European) Jewish descent, that 1 out of every 40 people carries a BRCA mutation.
A. Based on an article from 2012, experts estimate that there are about 940,000 people in the United States who carry a BRCA1 or BRCA2 mutation. Of these numbers, approximately 350,000 are estimated to be women age 20 or older. They estimated that about 49,000 had undergone testing at that time.
A. Although uncommon, it is possible for someone to inherit a mutation in both the BRCA1 and BRCA2 genes. Because it is unusual, there is little research on the related cancer risks. Experts will often use the higher risk estimates for each cancer. For ovarian cancer experts may use risk estimates similar to estimates for people with a BRCA1 mutation and for pancreatic cancer, prostate cancer, and melanoma, experts may use estimates similar to those for people with a BRCA2 mutation.
Q. My doctor recommended that I have BRCA genetic testing. I'm not sure that I want to have genetic testing, but I do want to understand more about the cancer in my family. If I do decide to have testing, how can I go about getting the test?
A. Before taking a hereditary cancer genetic test such as a BRCA test, it is recommended that you speak with an expert who specializes in cancer genetics. They will evaluate your family medical history and assure the proper test is ordered and results are interpreted correctly. Sometimes genetic testing is more informative if someone else in the family tests first before you. A genetic counselor will be able to determine the best person in your family to have testing. It is difficult to make an informed decision about genetic testing unless you receive up-to-date and credible information from an expert. A genetic expert will not try to talk you into or out of genetic testing but will look at your family history and educate you about your cancer risk and risk-management options. Once you understand your risks and options, the decision to undergo genetic testing is up to you.
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