We will be posting and answering Frequently Asked Questions about topics related to hereditary breast and ovarian cancer.
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.
You may withdraw from participating in a research study at any time for any reason.
Once you withdraw, the research team may ask if you would be willing to continue to contribute your information to the study outcomes even if you are no longer actively participating or taking a study medication. Continued access to your information can help researchers understand long term safety of the intervention or agent. It is your decision whether or not you would like to continue to provide updates to the research team.
Sometimes the list of sites enrolling patients is not complete or is outdated. If you are interested in a clinical trial or study that is not enrolling in your area, you may want to reach out to the main study contact to see if you can participate remotely, or if they are planning to open a study site near you in the future.
Some clinical trials have provisions for covering travel costs for out-of-state participants. Organizations like the Lazarex Foundation allow people with advanced cancer to apply for financial support to travel to participate in a clinical trial.
Placebos are harmless sugar pills that are made to look like a medication. They are sometimes used in clinical trials testing a new medication, these studies are known as placebo-controlled studies. In placebo-controlled studies, one group of participants receives the new medication and the other receives a placebo. Participants do not know which group they belong to.
There are several safety measures that minimize the risks for patients in studies that include placebos.
Clinical trials are only allowed to include placebos where the use of a placebo does not cause the patient increased risk or harm. In placebo-controlled trials patients are assigned to one of two or more groups, depending on the study. Below are some examples of how a placebo may be used in a clinical trial.
Before they enroll in a clinical trial, participants are told when a placebo is involved.
Some studies do provide compensation for your time to participate. Additionally, some may cover your out-of-pocket expenses, such as travel, parking, and childcare.
It is a common myth that treatment clinical trials are only for people who have very advanced cancers and have no further treatment options. In fact, there are treatment clinical trials for every stage of cancer and at all points on the treatment continuum.
Some clinical trials exclude people who have had a certain type of treatment or surgery. Therefore, if you are interested in participating in research, you may want to search for studies before you begin treatment in order to learn about all your options.
You have a right to information about all your medical options, including participation in a clinical trial. Your doctor may not be aware of clinical trials outside of her facility and therefore may not refer you. It is important that you inform your doctor before and after enrolling in a study, even if he did not recommend the study to you.
If you have exhausted all treatment options for advanced cancer, you may want to participate in research to gain access to a new or experimental treatment but find that you are ineligible for a clinical trial. Some pharmaceutical companies may allow expanded access to a new drug that is not yet approved by the FDA. To apply for expanded access to an agent, you should contact the company that makes the agent. You will need your oncologist to fill out paperwork and the approval process may take several weeks.
Genetics is a rapidly changing and improving area of medicine. Before taking a genetic test to learn if you are at high risk for cancer risk, it is recommended that you speak with an expert who specializes in cancer genetics. This is the best way to make sure that you receive the most up-to-date information in order to make informed medical decisions. They will evaluate your family medical history and assure the proper test is ordered and results are interpreted correctly. A genetics expert 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. You can find a genetics expert through the finding experts section of our website.
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 cancers are unique from other cancers because the risk can be passed on to children. The cancers caused by BRCA mutations are adult onset. For this reason genetics experts recommend against BRCA testing minors unless it will change medical care.
Although experts recommend against genetic testing of minors, children are frequently aware of the serious and inherited nature of cancer in their families leading parents to wonder what is the best age to share information with children, how to share information, and what information is appropriate to share. Although it is natural for parents to want to protect their children from difficult topics, children are already exposed to the disruption that cancer causes in families: the agonizing decision making, family members undergoing treatment and surgery, or loss of a family member to cancer. FORCE has several resources about informing children about cancer risk including a free, on-demand webinar, and we have developed a free, downloadable booklet with the National Society of Genetic Counselors with information for sharing genetic information with children.
Genetic testing can be complex, there are different types of BRCA tests, and interpretation of test results depends on several factors including your family history of cancer and which test was ordered. Test results are often used to make health care decisions. For these reasons, it is important to speak with a specialist in cancer genetics such as a genetic counselor, before and after BRCA testing. These experts will interpret your results and explain what they mean for cancer risk for you and your relatives, and recommend strategies to reduce your risks for cancer.
Mutations in BRCA1 or BRCA2 that are classified as “deleterious” are known to cause Heredity Breast and Ovarian Cancer Syndrome. Test results also include the identity of your exact mutation. Each mutation is identified by a specific set of letters and numbers. The numbers describe where in the BRCA gene the mutation occurred, while the letters describe the change that occurred. Results specify the type of change: for example, some mutations involve the insertion of extra DNA (ins) others involve the deletion (del) of DNA and some mutations involve DNA being rearranged or substituted with incorrect DNA. Each of these changes can lead the gene to not function properly. Armed with information about the specific test results, family members can be tested for the exact mutation that runs in their family rather than having the entire gene sequenced. Our Genetics 101 Webinar provides information on genetic testing interpretation.
Men can inherit a BRCA1 or BRCA2 mutation and pass their mutation on to their sons and daughters. A man with a BRCA mutation has an increased risk for male breast cancer, prostate cancer, pancreatic cancer, and melanoma. FORCE has a brochure with information about BRCA testing for men.
The lifetime risk for certain cancers is higher in people with either a BRCA1 or BRCA2 mutation than the risk for people who do not have a mutation. The cancer risks are different in people with BRCA1 mutations compared to people with BRCA2 mutations.
Ovarian/fallopian tube and primary peritoneal cancer
Women with mutations in BRCA1 have a higher risk of ovarian cancer (up to 40% lifetime risk) which tends to be younger onset than women with BRCA2 mutations (up to 20% lifetime risk).
Men with BRCA2 mutations are at higher risk of developing prostate cancer than men with BRCA1 mutation. Men with BRCA2 mutations are also more likely to develop prostate cancer at a younger age.
BRCA mutation carriers are at an elevated risk of developing pancreatic cancer. People with BRCA2 mutations have up to a 5% lifetime risk, while people with BRCA1 mutations have up to a 3% lifetime risk.
People with BRCA2 mutation are at an elevated risk of developing melanoma. Although data is limited, people with BRCA1 mutation may also be at elevated risk for melanoma.
Beyond which gene your mutation is on, experts believe that the type of mutation, the location on the gene, and other aspects of the mutation may influence risk. Researchers are studying individual mutations to link them to risk but this research is not completed, and current guidelines do not specify level of risk based on exact mutations.
Read our review of Dr. Tim Rebbeck's presentation on personalizing risk from our 2012 Joining FORCEs Conference.
Experts estimate that 1 out of every 300 - 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.
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.
BRCA testing performed by reputable labs is very accurate, and incorrect test results are very rare. However, interpretation of the test results can be complex and depends on which test was ordered. For this reason it is important to speak with a qualified genetics expert before and after BRCA testing to assure that the proper test was ordered and results were interpreted correctly.
If you are concerned that your test results may be incorrect, speak with your genetic counselor about second opinion genetic testing.
There is a large body of research behind the recommendation that women with BRCA mutations remove their ovaries and tubes. Much less research has been done on the benefits and risks of removing the uterus at the same time. The issue is complicated: some surgeons feel very strongly one way or the other about this surgery. Several factors play a role in this decision.
Risk for uterine cancer
Research suggests that there is a very small increased risk for aggressive types of uterine cancer in women with BRCA 1 mutations. BRCA 2 mutations have not been linked to increases in uterine cancer risk. Women who have a mutation that causes Lynch Syndrome (HNPCC) have an increased risk for uterine cancer and ovarian cancer and therefore a prophylactic hysterectomy is recommended along with BSO. You can read more in our section on uterine cancer risk.
Other factors that might affect this decision include:
You can read more in our section on hysterectomy.
New research suggests that many ovarian cancers in BRCA gene mutation carriers may actually start in the distal fallopian tube (part of the tube closest to the ovary), causing researchers to question whether salpingectomy (removal of the fallopian tubes alone) might reduce ovarian cancer risk.
Current expert guidelines recommend that women with BRCA mutations undergo bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) between the ages of 35 - 40 or after childbearing is completed. Research has shown that this surgery improves survival in mutation carriers.
Based on the emerging fallopian tube research, some gynecologic oncologists have proposed that interval salpingectomy—removing the fallopian tubes and leaving the ovaries intact until after natural menopause—might lower risk for ovarian cancer in high-risk women while avoiding the negative side effects and long-term health consequences associated with oophorectomy at a young age. After menopause women would then undergo a second procedure to remove their ovaries. Research studies are being designed to confirm this theory. Before the medical community can accept salpingectomy as a risk-reducing option, much more research is needed to show that this option is safe and effective.
Decisions regarding whether or not to take hormone replacement therapy after risk-reducing surgery are individual and personal. Menopausal symptoms and effects vary from woman to woman. Some of the consequences of menopause are more serious and long-term than others. Symptoms may include hot flashes, joint pain, loss of libido, vaginal dryness, and weight gain. Long-term health consequences of menopause may include increased risk for heart disease, bone density loss, and memory changes
Some women find hormone supplementation alleviates their menopausal symptoms. However, research on hormone replacement is inconclusive regarding the health benefits and risks to menopausal women. Much of the research has been conducted on women who experienced natural menopause, and experts are not certain how much the research on natural menopause applies to women experiencing early surgical menopause. It is important for each woman to discuss menopausal symptoms with their doctor and to weigh the potential benefits and relief from hormone replacement vs. their individual risks from hormone replacement or other menopausal treatments. Women who have had breast cancer are usually recommended to avoid hormone replacement therapy.
You can read more about the medical consequences of surgical menopause and the research on hormone replacement therapy in our section on menopause.
Premenopausal women natural have varying amounts of estrogen, progesterone, testosterone, and other hormones. Several hormone replacement options are available for women with surgical menopause containing varying amounts of these hormones alone or in combination.
Studies have shown that hormone replacement that combines estrogen and progesterone increase the risk for breast cancer. These studies were done on average risk women who went through natural menopause and were older than most BRCA mutation carriers who have BSO. Similar studies have shown that hormone replacement using estrogen alone (without progesterone) is not associated with a higher risk for breast cancer. Studies specifically looking at previvors with a BRCA mutation who undergo early surgical menopause do not show an increase in breast cancer risk in women who take any type of hormone replacement therapy.
Hormones come in several different types of preparations including as pills, in patches, or as cream. There is very little research to suggest that one form of hormones is better or safer than others.
You can read more about the research on hormone replacement therapy in our section on menopause.
Bilateral salpingo-oophorectomy is the most effective way to lower the risk for ovarian cancer but it does not eliminate the risk completely. After prophylactic oophorectomy, there is still a small risk for developing a type of cancer of the “peritoneum,” which is the lining of the abdomen. This cancer, called “primary peritoneal cancer,” is related to ovarian cancer. Although the risk remains, it is quite small. Currently there is no proven method of preventing or screening for primary peritoneal cancer.
Bilateral mastectomy is the most effective way to lower the risk for breast cancer, decreasing the risk by about 95%, but it doesn't lower the risk to zero. Even the most experienced breast surgeon cannot remove all breast tissue, a small risk of developing breast cancer remains after prophylactic mastectomy.
Nipple-sparing mastectomy is a type of skin-sparing procedure that allows a woman to retain her own areola and nipple. In the nipple-sparing procedure, the nipple-areola is completely removed from the breast, scraped clean of tissue and regrafted back onto the breast. During the surgery, a sample of the patient’s tissue beneath the nipple is tested. If cancer cells are found, the entire nipple-areolar complex is removed. Removing and regrafting the nipple usually causes it to lose most, if not all of its normal sensation and can change and flatten its shape. Complications from nipple-sparing mastectomy include nipple necrosis, which can lead to partial or complete loss of the nipple after surgery.
There have been very few reported cases of cancer developing in a nipple after mastectomy. A recent study has shown that the amount of tissue left behind in nipple-sparing mastectomy is extremely small. More long-term studies are needed to calculate the actual risk.
Choosing a method of reconstruction is very personal. Each procedure has advantages and disadvantages. Not all surgeons perform all procedures, and often, surgeons recommend only the techniques they perform. The most important actions a woman considering reconstruction can take is to learn about her options, decide which is best for her, then consult with and choose a surgeon who is experienced and expert in the technique she prefers. The Breast Reconstruction Guidebook by Kathy Steligo, is an excellent source of credible and balanced information on the different options after mastectomy.
If your health care provider has ordered screening tests and your insurance won’t pay, there are resources that can help you with appealing these decisions. The Patient Advocate Foundation provides services to help patients work with their insurance companies to get the care they need. The Center for Consumer Information and Insurance Oversight (CCIIO) at CMS is the agency consumers can contact for help when they feel they have been inappropriately denied services or were inappropriately charged a co-pay or deductible counter to the Patient Protection and Affordable Care Act.
GINA does not cover life or disability insurance, and there are no federal laws that prohibit genetic discrimination for these types of insurance and companies can use a genetic test result to deny people policies.
The cost of genetic testing ranges from several hundred to several thousand dollars. Costs vary according to factors including whether a mutation has already been identified in your family, which test is ordered, and which laboratory is used. Most insurance companies will cover the cost of genetic testing in individuals who have either a personal history or family history of cancer and who meet certain guidelines. Insurance plans under the Affordable Care Act must cover the entire cost of genetic counseling and BRCA testing in women with a family history of cancer as outlined by the United States Preventive Services Task Force.
Consulting with a genetics expert is the best way to assure that the proper test is ordered and covered by insurance.
You can read more about insurance coverage for genetic testing in our information section on insurance coverage.
Financial assistance for BRCA testing is sometimes available. A genetic counselor or expert can also help you identify local or national resources to help pay for genetic testing. Many of the laboratories that offer testing have financial assistance programs for people who meet their criteria. The Cancer Resource Foundation offers co-pay assistance for cancer genetic testing.
If your health care provider feels you should have genetic testing and your insurance won’t pay, there are resources that can help you with appealing these decisions. The Patient Advocate Foundation provides services to help patients work with their insurance companies to get the care they need. The Center for Consumer Information and Insurance Oversight (CCIIO) at CMS is the agency consumers can contact for help when they feel they have been inappropriately denied services or were inappropriately charged a co-pay or deductible counter to the Patient Protection and Affordable Care Act.
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that prohibits health insurance and employment discrimination on the basis of genetic information or a genetic test result. The Patient Protection and Affordable Care Act eliminates the use of pre-existing conditions to deny or impose waiting periods on insurance coverage, therefore you cannot be denied health insurance based on a cancer diagnosis or genetic test result.
You can learn more about both laws and how they affect access to care in the insurance section of our website.
Cancer genetic counselors, geneticists, and risk assessment counselors are health care providers who are specialists in hereditary diseases. They can help individuals more clearly understand their risk for hereditary cancer, assure that the most appropriate genetic tests are ordered and properly interpreted. Geneticists are physicians with specialized expertise in hereditary diseases. Certified genetic counselors are health care professionals who have had specialized training and have earned a Master's degree in genetic counseling.
The National Society of Genetic Counselors website offers a lookup tool for finding a certified genetic counselor by state and specialty (to find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization"). InformedDNA provides genetic counseling consultations by telephone with board-certified genetic counselors. The Gene Tests website which is maintained by the National Library of Medicine, has a section with links to a searchable databases for locating genetics clinics by area of specialization and by state, zip-code, or professional affiliation.
A high-risk woman undergoing prophylactic oophorectomy is at risk for ovarian cancer being found at the time of surgery, even when she shows no signs of ovarian cancer. Therefore the surgeon should follow a special protocol to identify any abnormalities and also be prepared to perform full staging if an ovarian cancer is seen.
Although an experienced gynecologic surgeon can perform an oophorectomy, it is important for a surgeon to be familiar with this high-risk protocol and have experience in prophylactic oophorectomy for high-risk women. Many facilities refer high-risk women to specialists known as gynecologic-oncologists: although these specialists often treat ovarian cancer, they are also trained in spotting abnormalities that might indicate cancer, are familiar with the high-risk protocol which should be followed for prophylactic surgery and can perform full staging if a cancer is found. Some facilities will schedule prophylactic oophorectomy with a gynecologist, but will have a gynecologic-oncologist available in case an abnormality is found. You can find a gynecologic-oncologist near you through Foundation for Women’s Cancer website.
The North American Menopause Society (NAMS) sets standards and offers certification for experts who provide healthcare for women through perimenopause and beyond. To help women find a menopause clinician who is right for them, NAMS has assembled a search tool that includes those NAMS members and NAMS Certified Menopause Practitioners (NCMPs).