When A Family Member Has An Inherited Gene Mutation
Just because one person in the family has an inherited gene mutation doesnt mean everyone in the family has the mutation. Only identical twins have the exact same genes. Other family members share some, but not all, of their genes.
For example, if your mother has a BRCA1 gene mutation, theres a 50 percent chance youll have a BRCA1 mutation .
If your family members with breast cancer or ovarian cancer arent alive or arent willing to be tested , a genetic counselor can help you decide if it would be useful to have BRCA1/2 testing or expanded panel testing.
What Do I Ask The Doctor
Visiting the doctor can be stressful. It helps to have questions written down ahead of time. Print these questions and take them with you when you visit the doctor. You may also want to ask a family member or close friend to go with you to take notes.
- What is my 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 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 childrens health?
- If I have a mutated gene, what does that mean for other members of my family?
- If I get geneting 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 are recommended to check for breast and ovarian cancer?
- Is there information I can take with me about genetic testing?
Guidelines For Breast Cancer Screening
If you have a genetic risk factor for breast cancer, regular screening is an essential part of your care. Specialists have access to additional resources for calculating patients breast cancer risk, and can use these data to recommend screening schedules. Your doctor will recommend a screening plan thats most appropriate for you.
At Johns Hopkins, enhanced surveillance for high-risk patients consists of a breast exam every six months, alternating mammograms with MRI scans to minimize radiation exposure, says Ninan. For women with a family history of breast cancer but with no known gene mutation, screening can begin five years before the earliest age at diagnosis in the family. For example, if your mother was diagnosed when she was 35, you should begin screening when you are 30.
For women with a BRCA1 or BRCA2 mutation, screening could start as early as age 25, Ninan says. There is some concern that the radiation exposure from mammograms performed before age 30 could increase breast cancer risk, especially in BRCA1 and BRCA2 mutation carriers. With that in mind, screening early in life usually consists of breast exams and MRI scans, if called for.
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Who Has Access To A Persons Genetic Test Results
Medical test results are normally included in a persons medical records, particularly if a doctor or other health care provider has ordered the test or has been consulted about the test results. Therefore, people considering genetic testing must understand that their results may become known to other people or organizations that have legitimate, legal access to their medical records, such as their insurance company or employer, if their employer provides the patients health insurance as a benefit.
However, legal protections are in place to prevent genetic discrimination, which would occur if health insurance companies or employers were to treat people differently because they have a gene variant that increases their risk of a disease such as cancer or because they have a strong family history of a disease such as cancer.
In 2008, the Genetic Information Nondiscrimination Act became federal law for all U.S. residents. GINA prohibits discrimination based on genetic information in determining health insurance eligibility or rates and suitability for employment. However, GINA does not cover members of the military, and it does not apply to life insurance, disability insurance, or long-term care insurance. Some states have additional genetic nondiscrimination legislation that addresses the possibility of discrimination in those contexts.
Mutations That Increase Breast Cancer Risk
The majority of breast cancer patients are the only member of their family with breast cancer and most cases are attributed to environmental or lifestyle factors. Fewer than 15% of women with breast cancer have a first-degree relative with this disease, and only a small fraction of the population carries inherited germline mutations that increase their lifetime cancer risk. Several genes associated with an increased risk of breast cancer have been identified. The level of increased risk and type of cancers that occur in a family will vary with the particular gene involved. Mutations in each gene are rare, however collectively these mutations account for a significant amount of hereditary cancer susceptibility in the population.
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Is There A Genetic Test For Breast Cancer
If you suspect you have a genetic risk for breast cancer, such as BRCA mutation, you may decide to get tested.
The genetic test is simple a blood test covered by most insurance companies. It can take a couple weeks to get results. Ninan says, For those who have a family member who has tested positive for an abnormal breast cancer gene, the lab can look for that specific mutation. In these cases, results may take one week.
Cost Of Genetic Testing To Guide Breast Cancer Treatment
If your health care provider recommends genetic testing to help guide your breast cancer treatment, insurance usually covers the cost. However, its best to check with your health insurance company to find out whether genetic testing costs are covered in your plan.
Your health care provider or a genetic counselor can help you determine if your insurance will cover genetic testing.
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How Is The Test Done
Before the test is done, speak to a genetic counselor to decide whether to have the test.
- Bring with you your medical history, family’s medical history, and questions.
- You might want to bring someone with you to listen and take notes. It is hard to hear and remember everything.
If you decide to be tested, your blood sample is sent to a lab that specializes in genetic testing. That lab will test your blood for the BRCA1 and BRCA2 mutations. It can take weeks or months to get the test results.
When the test results are back, the genetic counselor will explain the results and what they mean for you.
Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others
Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .
Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.
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How Accurate Is Genetic Testing For Breast Cancer
Generally speaking, genetic testing is quite accurate at detecting known genetic variants. But these tests cannot tell you whether youll eventually develop breast cancer.
Receiving a positive result means that, compared to the general population, youre at an increased risk of developing breast cancer. Different gene variations can be linked to different levels of risk.
A positive result doesnt mean that youre certain to get breast cancer in the future. In fact, its possible youll never develop breast cancer. Your genetic counselor can give you a better idea of your breast cancer risk.
Similarly, a negative result doesnt mean that youll never develop breast cancer.
Tests dont always cover a broad range of gene variations. Its possible that you may have a harmful variation that wasnt covered by your test.
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Who Can Be Tested For Inherited Faulty Genes
You may be eligible for an NHS genetic test if cancer runs in your family and you are worried you may get it too. The test can tell you whether you have inherited a faulty gene that increases your risk of cancer.
Testing for genes that increase the risk of cancer is called predictive genetic testing. A positive result means you have an increased risk of developing cancer. But it doesn’t mean that you have cancer or will definitely develop it.
You may be eligible for an NHS genetic test if:
- an inherited faulty gene has already been found in one of your relatives or
- there is a strong family history of cancer in your family
You need to be referred for genetic testing by a specialist doctor .
You can have private genetic testing. But you need to think about this carefully. You can find out more about private genetic testing at the bottom of this page.
At the genetic clinic, you see a genetic specialist or counsellor. They will:
- look in detail at your family history
- work out your risk of developing cancer
- work out whether you need a genetic test
Your first appointment might be at the clinic or over the phone. During this meeting, the counsellor will ask you questions about any members of your family who have had cancer. And how old they were when diagnosed.
Your genetic clinic appointment is your chance to ask questions. If youre not sure what to ask you can look at our questions for your doctor.
You could print them out and add any other questions that you might have.
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Who Should Get Breast Cancer Genetic Testing
Genetic testing is the only way to know whether you have a breast cancer gene. These blood tests check for BRCA1 and BRCA2, as well as other known breast cancer genes.
If you have already been diagnosed with breast cancer, you may need genetic testing if you:
- Are of Ashkenazi Jewish descent.
- Were born biologically male.
- Have a family history of breast cancer, especially if the relatives were male or under age 45 when they were diagnosed.
- Have a family history of ovarian, pancreatic or prostate or other cancer.
- Have a second breast cancer .
- Have triple-negative breast cancer that was diagnosed before you were 60.
- Were diagnosed with breast cancer at age 45 or younger.
If you havent been diagnosed with breast cancer, consider genetic testing if you:
- Were born biologically male and have been diagnosed with pancreatic cancer or high-grade metastatic prostate cancer.
- Have a close family member with cancers, including ovarian cancer, pancreatic cancer or metastatic prostate cancer.
- Have a known family history of the BRCA gene mutations.
- Have a male relative with breast cancer or a female relative with cancer in both breasts.
- Have been diagnosed with ovarian or pancreatic cancer.
- Have family members who were diagnosed with breast cancer before age 45.
- Have more than one family member with breast cancer.
Genetic tests are helpful for people with risk factors, but not everyone needs them.
How Common Are Breast Cancer Gene Mutations
Breast cancer gene mutations arent common in the general population, Dr. Eng says, but they are common in people who have breast cancer. About 10% to 15% of people with breast cancer have one of the breast cancer gene mutations.
You can inherit these gene mutations from either of your biological parents, and the cancers theyre linked to can affect both men and women so consider all your relatives when thinking about your family history.
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If You Have Metastatic Breast Cancer
The National Comprehensive Cancer Network recommends everyone diagnosed with metastatic breast cancer get genetic testing for BRCA1 and BRCA2 inherited gene mutations . People who have an inherited mutation in one of these genes may have a PARP inhibitor drug included in their treatment plan .
As more is learned and breast cancer treatment becomes more personalized, inherited gene mutations may help guide other parts of breast cancer treatment.
After You Get Your Results
No matter the results, you may have an emotional response .
Remember, having a BRCA1/2 inherited gene mutation or other inherited gene mutation that increases breast cancer risk doesnt mean you will get breast cancer.
Some people with an inherited gene mutation never get breast cancer. And, people without an inherited gene mutation are still at risk. Most women who get breast cancer dont have an inherited gene mutation or a family history of breast cancer .
If you have a BRCA1/2 gene mutation, there are special cancer screening guidelines. There are also options to help lower your risk. Discuss these options with your health care provider.
There are breast cancer screening and risk reduction guidelines for some of the other high-risk and moderate-risk gene mutations. As we learn more about these mutations, guidelines can become more personalized.
Whether or not you have a gene mutation related to breast cancer, there are things you can do to help lower your risk.
Learn more about a healthy lifestyle and breast cancer risk.
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Disadvantages Of Genetic Testing
Some genetic test results identify a variation in a gene. But it may not be clear whether it increases your cancer risk or not. This can be difficult to cope with.
You may have a constant worry about developing cancer if the test finds a faulty gene. If the test is positive, you may also need to tell other relatives that they may have inherited the same gene.
Why Do Some People Decide Not To Have The Test
After looking at the advantages and disadvantages of testing, some people choose not to have a genetic test. They may feel that they dont want to know if they have a higher than normal cancer risk.
Some people decide they dont want any preventative treatment even if they have a faulty gene. So they may not feel they have anything to gain by having the test.
Only you can decide what is best for you.
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What Are The Potential Problems With Genetic Testing
Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of getting breast cancer. If the test is positive, there is still a 15% to 20% chance of not getting breast cancer.
Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance coverage varies.
The results of genetic tests won’t be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.
Genetic testing is very controversial. Legislation has been enacted to protect people who may have a documented genetic risk of cancer from employment or insurance problems. The best thing you can do is to become involved with an established genetic registry that can counsel people who have a genetic risk for cancer.
What Else Do You Need To Make Your Decision
Check the facts
- No, that’s not true. A gene test isn’t for everyone. It’s only recommended for women who have a strong family history of breast or ovarian cancer.
- You’re right. Most women don’t need a breast cancer gene test. It is only recommended for women who have a strong family history of breast or ovarian cancer.
- It may help to go back and read “Get the Facts.” A breast cancer gene test is only recommended for women who have a strong family history of breast or ovarian cancer.
- You’re right. Most women with a family history of breast or ovarian cancereven a strong family historydon’t have BRCA gene changes.
- No, this is actually true. Most women with a family history of breast or ovarian cancereven a strong family historydon’t have BRCA gene changes.
- It may help to go back and read “Get the Facts.” Most women with a family history of breast or ovarian cancereven a strong family historydon’t have BRCA gene changes.
- Yes, you’re right. Having a BRCA gene change increases your chances of getting breast or ovarian cancer.
- No, that’s not right. Having a BRCA gene change does increase your chances of getting breast or ovarian cancer.
- It may help to go back and read “Get the Facts.” Having a BRCA gene change increases your chances of getting breast or ovarian cancer.
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How Is Genetic Testing Done
Genetic tests are usually requested by a persons genetic counselor, doctor, or other health care provider who has reviewed the individuals person and family history. The genetic test options from which a health professional may select include those that look at a single gene and those that look for harmful variants in multiple genes at the same time. Tests of the latter type are called multigene tests.
Testing is done on a small sample of bodily fluid or tissueusually blood, but sometimes saliva, cells from inside the cheek, or skin cells. The sample is then sent to a laboratory that specializes in genetic testing. The laboratory returns the test results to the doctor or genetic counselor who requested the test. It usually takes several weeks or longer to get the test results.
Health insurance typically covers genetic counseling and many genetic tests, if they are considered medically necessary. A person considering genetic testing should discuss costs and health insurance coverage with their doctor and insurance company before being tested.