Each year, over 200,000 women in the United States learn that they have breast cancer and more than 20,000 find out that they have ovarian cancer. While most of these cancers happen by chance, some are hereditary, meaning that they are caused by genetic changes (called mutations) which are passed down in families.

Effective medical options are available for women at risk for hereditary breast and ovarian cancer that can make them less likely to get these cancers. Because of this, all women should learn about their family health history of breast and ovarian cancer to know if they could be at risk for hereditary breast and ovarian cancer.

The first step to find out if you are at risk is to collect your family health history of breast and ovarian cancer and share this information with your doctor. If your family health history shows that you could be at risk for hereditary breast and ovarian cancer, your doctor may refer you for genetic counseling and genetic testing.

Hereditary Breast and Ovarian Cancer

About 5% to 10% of breast and 10% to 15% of ovarian cancers are hereditary. Hereditary cancer means cancer runs in your family, and could be caused by a change in certain genes that you inherited from your mother or father.

Genes act as instructions and contain information to build and maintain cells in the body. Humans inherit one set of genes from their mother and one set of genes from their father.

Genes are made up of DNA. DNA tells the body what traits will be passed on from parents to children, such as blood type, hair color, eye color, and risks of getting certain diseases.

BRCA Genes

BRCA1 and BRCA2 are two genes that are important to fighting cancer. They are tumor suppressor genes. When they work normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.

Sometimes a change or mutation occurs in the BRCA genes that prevent them from working normally. This raises a person’s risk for breast, ovarian and other cancers. Learn more about BRCA gene mutations.

The genes most commonly affected in hereditary breast and ovarian cancer are the breast cancer 1(BRCA1) and breast cancer 2(BRCA2) genes. About 3% of breast cancers (about 7,500 women per year) and 10% of ovarian cancers (about 2,000 women per year) result from inherited mutations in the BRCA1 and BRCA2 genes.

Normally, the BRCA1 and BRCA2 genes protect you from getting certain cancers. But some mutations in the BRCA1 and BRCA2 genes prevent them from working properly, so that if you inherit one of these mutations, you are more likely to get breast, ovarian, and other cancers. However, not everyone who inherits a BRCA1 or BRCA2 mutation will get breast or ovarian cancer.

Everyone has two copies of the BRCA1 and BRCA2 genes, one copy inherited from their mother and one from their father. Even if a person inherits a BRCA1 or BRCA2 mutation from one parent, they still have the normal copy of the BRCA1 or BRCA2 gene from the other parent. Cancer occurs when a second mutation happens that affects the normal copy of the gene, so that the person no longer has a BRCA1 or BRCA2 gene that works properly. Unlike the inherited BRCA1 or BRCA2 mutation, the second mutation would not be present throughout the person’s body, but would only be present in the cancer tissue.

Breast and ovarian cancer can also be caused by inherited mutations in genes other than BRCA1 and BRCA2. This means that in some families with a history of breast and ovarian cancer, family members will not have mutations in BRCA1 or BRCA2, but can have mutations in one of these other genes. These mutations might be identified through genetic testing using multigene panels, which look for mutations in several different genes at the same time.

You and your family members are more likely to have a BRCA1 or BRCA2 mutation if your family has a strong history of breast or ovarian cancer. Family members who inherit BRCA1 and BRCA2 mutations usually share the same mutation. If one of your family members has a known BRCA1 or BRCA2 mutation, other family members who get genetic testing should be checked for that mutation.

If you are concerned that you could have a BRCA1, BRCA2, or other mutation related to breast and ovarian cancer, the first step is to collect your family health history of breast and ovarian cancer and share this information with your doctor.

If you are a woman with a family health history of breast cancer or ovarian cancer, you may be more likely to get these cancers yourself. Collecting your family health history of breast, ovarian, and other cancers and sharing this information with your doctor can help you find out if you’re at higher risk. If you have had breast, ovarian, or other cancers, make sure that your family members know about your diagnosis.

Your doctor might consider your family health history in deciding when you should start mammography screening for breast cancer. If you are a woman with a parent, sibling, or child with breast cancer, you are at higher risk for breast cancer. Based on current recommendationsexternal icon, you should consider talking to your doctor about starting mammography screening in your 40s. In some cases, your doctor might recommend that you have genetic counseling, and a genetic counselor might recommend genetic testing based on your family health history. Breast, ovarian, and other cancers are sometimes caused by inherited mutations in BRCA1, BRCA2, and other genes. The genetic counselor can help determine which genetic mutations you should be tested for, based on your personal and family health history of cancer, ancestry, and other factors.

When collecting your family health history:

• Include your parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, and nephews
• List any cancers that each relative had and at what age he or she was diagnosed. For relatives who have died, list age and cause of death.
• Remember that breast and ovarian cancer risk doesn’t just come from your mother’s side of the family—your father’s relatives with breast, ovarian, and other cancers matter, too!
• Update your family health history on a regular basis and let your doctor know about any new cases of breast, ovarian, or other cancer.

If you are concerned about your personal or family health history of breast, ovarian, or other cancer, talk to your doctor. Whether or not you have a family health history of breast or ovarian cancer, you can take steps to help lower your risk of breast cancer and ovarian cancer.

This table provides examples of average, moderate, and strong family health histories of breast and ovarian cancer. This may help you understand if you have an increased risk for these cancers based on your family health history.

Note: This table does not include all possible family health histories of breast and ovarian cancer. If you have concerns about your family health history of breast or ovarian cancer, please talk to your doctor. Your doctor may assess your risk based on your personal and family health history, using one of the following:

• Ontario Family History Assessment Tool
• Manchester Scoring System
• Referral Screening Tool
• Pedigree Assessment Tool
• FHS-7

Results may vary, depending on the tool used, and may differ from the risk categories below, which are based largely on the guidelines from the National Comprehensive Cancer Network.

First-degree = parents, brothers, sisters, children

Second-degree = aunts, uncles, nieces, nephews, grandparents, grandchildren

Triple negative cancers are a type of breast cancer that lack estrogen receptors, progesterone receptors, and human epidermal growth factor receptor 2.

Family Health History, Breast and Ovarian Cancer Risk, and Women of Ashkenazi Jewish or Eastern European ancestry

If you are a woman of Ashkenazi Jewish or Eastern European ancestry and have a moderate family health history of breast and ovarian cancer, you should talk with your health care provider about genetic counseling and testing. Women of Ashkenazi Jewish or Eastern European ancestry are more likely to have BRCA1 and BRCA2 mutations, regardless of their family health history. This means that women of Ashkenazi Jewish or Eastern European ancestry who have a family health history of breast or ovarian cancer are at higher risk than women of other ancestries with similar family health histories. A family health history that would be considered moderate risk for most women might be considered strong risk for women of Ashkenazi Jewish or Eastern European ancestry.

Everyone has BRCA1 and BRCA 2 genes. Some people have changes, called mutations, in these genes. One in 40 Ashkenazi Jewish women has a BRCA gene mutation.

Mutations in BRCA genes raise a person’s risk for getting breast cancer at a young age, and also for getting ovarian and other cancers. That is why Ashkenazi Jewish women are at higher risk for breast cancer at a young age. If your mother or father has a BRCA gene mutation, you have a 50% chance of having the same gene mutation.

If you are of Ashkenazi Jewish descent, you have a higher risk for a BRCA gene mutation. If either of the following are true, you should consider genetic counseling—

• Any first-degree relative (mother, daughter, or sister) has been diagnosed with breast or ovarian cancer.
• Two second-degree relatives (grandmother, aunt, or niece) on the same side of the family have been diagnosed with breast or ovarian cancer. These can be relatives on your mother’s or father’s side of the family.

Not every woman who has a BRCA gene mutation will get breast or ovarian cancer, but having a gene mutation puts you at an increased risk for these cancers.

• About 50 out of 100 women with a BRCA gene mutation will get breast cancer by the time they turn 70 years old, compared to only 7 out of 100 women in the general U.S. population.
• About 30 out of 100 women with a BRCA gene mutation will get ovarian cancer by the time they turn 70 years old, compared to fewer than 1 out of 100 women in the general U.S. population.

Understanding your cancer risk and being proactive about your health may help you lower your risk for getting breast or ovarian cancer at a young age, or find it at an early stage when treatment works best.

If you have close relatives with breast or ovarian cancer, you may be at higher risk for developing these diseases. Does your family health history put you at higher risk? Would you benefit from cancer genetic counseling and testing?

Each year, about 242,000 women in the United States are diagnosed with breast cancer and more than 21,000 are diagnosed with ovarian cancer. About 3% of breast cancers (about 7,300 women per year) and 10% of ovarian cancers (about 2,100 women per year) result from inherited mutations (changes) in the BRCA1 and BRCA2 genes that are passed on in families. Inherited mutations in other genes can also cause breast and ovarian cancer, but BRCA1 and BRCA2 are the genes most commonly affected. Although breast cancer is much more common in women, men with BRCA1 or BRCA2 mutations are more likely to get breast cancer than other men. BRCA mutations also increase the likelihood of getting pancreatic cancer and, in men, high grade prostate cancer. Knowing your family health history can help you find out if you could be more likely to develop breast, ovarian, and other cancers. If so, you can take steps to prevent cancer or to detect it earlier when it may be more treatable.

Does Your Family Health History Put You At Risk?

Collect your family health history of breast, ovarian, and other cancers and share this information with your doctor. You can inherit BRCA and other mutations from your mother or your father, so be sure to include information from both sides of your family. Include your close relatives: parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, nephews, and grandchildren. If you have had breast, ovarian, or other cancers, make sure that your family members know about your diagnosis.

Tell your doctor if you have a personal or family health history of any of the following:

• Breast cancer, especially at a younger age (age 50 or younger)
• Triple negative breast cancer at age 60 or younger in women (Triple negative cancers are a type of breast cancer that lack estrogen receptors, progesterone receptors and human epidermal growth factor receptor 2.)
• Cancer in both breasts
• Breast cancer in a male relative
• Ovarian, fallopian tube, or primary peritoneal cancer
• Pancreatic cancer or high grade prostate cancer
• Breast, ovarian, pancreatic, or high grade prostate cancer among multiple blood relatives
• Ashkenazi (Eastern European) Jewish ancestry
• A known BRCA mutation in the family

You can use the Know:BRCA tool to collect your family health history information, assess your risk for BRCA mutations, and share this information with your doctor. Update your family health history on a regular basis and let your doctor know if any new cases of breast or ovarian cancer occur.

What Can You Do If You Are Concerned About Your Risk?

If your doctor decides that your family health history makes you more likely to get breast, ovarian, and other cancers, he or she may refer you for genetic counseling. Even if your doctor doesn’t recommend genetic testing and counseling, your family health history of breast cancer can affect when you start mammography screening. If you are a woman with a parent, sibling, or child with breast cancer, you are at higher risk for breast cancer. Based on current recommendations, you should consider talking to your doctor about starting mammography screening in your 40s.

The genetic counselor can use your family health history information to determine your possible cancer risks and whether you might consider BRCA genetic testing to find out if you have a BRCA1 or BRCA2 mutation. Genetic testing is most useful if first performed on someone in your family who has had breast or ovarian cancer. If this relative has a BRCA1 or BRCA2 mutation, then her close relatives can be offered testing for that mutation. If she does not have a BRCA1 or BRCA2 mutation, then her relatives may not need to be tested. Remember that most breast and ovarian cancer is not caused by BRCA mutations so most women don’t need BRCA genetic testing.

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.

If you were born with certain mutations (changes) in the BRCA1 gene or the BRCA2 gene, you’re at higher risk of developing breast and ovarian cancer. You may also be at higher risk of developing other types of cancer.

Genetic counseling and testing can help you understand your risk of developing these cancers — or getting them again.

• Genetic tests can show whether you were born with mutations in certain genes that increase your risk of cancer.
• Genetic counseling can help you understand the testing process and decide if it makes sense for you. It can also help you understand your results.

Should I talk to the doctor about genetic testing?

Talk with your doctor about genetic testing to learn about your risk of breast and ovarian cancers if you have:

• A family member who had breast cancer before age 50
• A family member who had cancer in both breasts
• A family member who had both breast and ovarian cancer
• A male family member who had breast cancer
• 2 or more family members who had breast cancer
• 1 or more family members with 2 types of BRCA-related cancer (including breast and ovarian cancer)
• Eastern European (Ashkenazi) Jewish heritage

It's also a good idea to ask about genetic testing if you've already had breast or ovarian cancer.

If genetic tests show that you're at higher risk of developing breast or ovarian cancer — or of getting cancer a second time — you and your doctor can discuss options for managing your risk.

What about cost?

Insurance plans must cover genetic counseling and testing for women at higher risk of getting breast cancer. That means you may be able to get counseling at no cost to you. Talk to your insurance company to find out more.

What do I ask the doctor?

When you visit the doctor, it helps to have questions written down ahead of time. You may also want to ask a family member or close friend to go with you to take notes on the conversation for you.

Print these questions and take them with you when you visit the doctor.

• Am I at risk of developing breast or ovarian cancer?
• Are there warning signs I can look out for?
• Based on my health history and my family history, would you recommend genetic testing to learn more about my risk?
• What are the benefits and risks of genetic testing?
• What are my chances of having a mutated (changed) gene that could increase my risk for cancer?
• What would a positive or negative test result mean for me?
• If I have a mutated gene, what are my options for managing my risk?
• If I have a mutated gene, what would it mean for my children's health?
• If I have a mutated gene, what does that mean for other members of my family?
• If I get genetic testing, who will be able to see my test results?
• Besides mutated genes, what other things increase my risk for breast and ovarian cancer?
• If I decide not to do genetic testing, what types of cancer screening tests would you recommend to check for breast and ovarian cancer?
• Is there information I can take with me about genetic testing?

Several medical options are available for managing breast and ovarian cancer risk in women who have BRCA1 or BRCA2 mutations, but who have not yet had breast or ovarian cancer themselves. These options have risks and benefits, and you should discuss them with a doctor knowledgeable about medical management for women with BRCA1 or BRCA2 mutations.

The most effective option for preventing cancer is surgery to remove the breasts (mastectomy) and ovaries and fallopian tubes (salpingo-oophorectomy).

Other available options may reduce the chance of developing cancer or improve the likelihood of detecting it earlier, but the effectiveness of these options is less certain.

• Taking medications (such as tamoxifen and raloxifene) to lower the chance of developing breast or ovarian cancer
• Yearly screening with breast magnetic resonance imaging (MRI) and mammogram, possibly starting at a younger age
• Clinical breast exams, starting at a younger age and done more frequently
• Screening for ovarian cancer with pelvic exam, transvaginal ultrasound, and CA-125 blood tests
• Engaging in healthy behaviors, such as keeping a healthy weight and exercising regularly

BRCA genetic testing can also guide treatment options for women with breast or ovarian cancer. For example, women with cancer in one breast who test positive for a BRCA1 or BRCA2 mutation may opt to have both breasts removed, rather than having surgery only on the affected breast.

Cancer screening for men with BRCA1 and BRCA2 mutations

Men with BRCA1 and BRCA2 mutations are more likely to get breast cancer and high grade prostate cancer than other men. Both men and women with BRCA mutations are more likely to get pancreatic cancer. If you are a man with a BRCA1 or BRCA2 mutation, your doctor may recommend the following:

• Breast self-exam training and education starting at age 35
• Yearly clinical breast exams starting at age 35
• Prostate cancer screening starting at age 40

Why Talk to My Family?

Your family members can benefit from knowing about your BRCA1 or BRCA2 mutation. Talk to your family members about your mutation, so they will know that

• BRCA1 and BRCA2 mutations are passed through families.
• A person with a BRCA1 or BRCA2 mutation is more likely to get breast, ovarian, and other cancers.
• Genetic counseling and testing for BRCA1 and BRCA2 mutations can provide information about their risk.
• If they choose to be tested, they should be tested for the same mutation that you have.
• Steps can be taken to prevent breast and ovarian cancer or find it earlier.

How Do I Talk to My Family About My BRCA1 or BRCA2 Mutation?

• WHO: Your parents, siblings, and children are the family members who are most likely to have the same BRCA1 or BRCA2 mutation that you do. Other blood relatives, such as aunts, uncles, nieces, nephews, and cousins, are also more likely to have the mutation. Your healthcare provider or genetic counselor can help you figure out who in your family might have the mutation and thus would benefit from knowing about your mutation.
• WHAT: You can share test results, letters from your doctor or genetic counselor, or other information you received about your mutation with your family. Giving family members information about your specific genetic mutation helps their healthcare providers know exactly which test to use and might possibly save your family money.
• HOW: If you need extra support talking to your family, bring a friend. You can also ask a family member to attend your next medical appointment with you. The website Kintalk can help you let your relatives know about your mutation, and it provides resources to help your relatives learn more about BRCA1 and BRCA2 mutations.

How Do I Talk to My Children?

If you have a BRCA1 or BRCA2 mutation, each of your children has a 50% (1 in 2) chance of also having it. Genetic testing for BRCA1 or BRCA2 mutations is typically not recommended for children younger than 18, but can be considered when your children reach adulthood. Younger children might not be able to understand what your mutation means for you or for them.

Children differ in the age at which they are ready to learn about this information. Answer the questions they ask. They will ask more complex questions as they grow and are ready to learn more.

Know that your children may have fears about the risk both to themselves and to you. Just as you need time and support to cope with the information and accept it, so will your children.

What if My Family Does Not Want to Talk?

Talking to some family members about your BRCA1 or BRCA2 mutation might not be easy. Some might not understand why they need to know this information. Others might be nervous that they could also have the mutation. Remember that family members need to make their own choices about getting tested, whether or not you agree with their decisions. If family members don’t want to talk about your BRCA1 or BRCA2 mutation, respect their wishes. Let them know you are available to talk if they have questions, and give them places to find information.

When family members don’t want to talk about your BRCA1 or BRCA2 mutation, you might feel upset or alone. Seek support from friends, healthcare providers, other family members, or people you know with BRCA1 or BRCA2 mutations.