what tests are used to determine if you are a carrier of a mutated brca gene? course hero

by Justina Walker 6 min read

Testing for inherited BRCA1 and BRCA2 variants may be done using a blood sample or a saliva sample. That is because blood cells and cells that are present in saliva, like every cell in the body, contain the BRCA1 and BRCA2 genes.

Full Answer

How do you determine if someone carries a mutant BRCA allele?

Testing for inherited BRCA1 and BRCA2 variants may be done using a blood sample or a saliva sample. That is because blood cells and cells that are present in saliva, like every cell in the body, contain the BRCA1 and BRCA2 genes.

Are genetic tests available to check for the mutated form of BRCA?

Genetic testing for hereditary breast and ovarian cancer looks for mutations in the BRCA1 and BRCA2 genes. Your doctor might suggest testing using a multigene panel, which looks for mutations in several genes at the same time, including BRCA1 and BRCA2.

What is BRCA mutation carrier?

If you're a “BRCA carrier,” you have a mutation, or change, in one of the BRCA genes which prevents it from working properly. These individuals have higher lifetime risks for cancer because the gene is not functioning correctly.

What is the BRCA test called?

A breast cancer (BRCA) gene test is a blood test to check for changes (mutations) in genes called BRCA1 and BRCA2. This test can help you know your chance of getting breast cancer and ovarian cancer.

How is BRCA testing done?

The BRCA gene test is most often a blood test. A doctor, nurse or medical technician inserts a needle into a vein, usually in your arm, to draw the blood sample needed for testing. The sample is sent to a lab for DNA analysis. In some cases, other sample types are collected for DNA analysis, including saliva.

What is BRCA1 and BRCA2 testing?

The BRCA1 and BRCA2 gene test is a blood test that can tell you if you have a higher risk of getting cancer. The name BRCA comes from the first two letters of breast cancer.

How accurate is the BRCA gene test?

How accurate are the BRCA tests? No test is 100 percent accurate, but the BRCA tests are good at detection. It's important to remember that just because there is a negative genetic test result doesn't mean a person won't get breast cancer.

What do you do if you have the BRCA mutation?

Medical Options for Women with BRCA1 and BRCA2 MutationsTaking medications (such as tamoxifen and raloxifene, and aromatase inhibitors) 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.More items...

Should you get a mastectomy if you have the BRCA gene?

Prophylactic mastectomy can reduce the chances of developing breast cancer in women at high risk of the disease: For women with the BRCA1 or BRCA2 mutation, prophylactic mastectomy reduces the risk of developing breast cancer by 90 to 95 percent.

Does 23andMe test BRCA?

23andMe offers a genetic test for three variants in the BRCA1 and BRCA2 genes to its Health + Ancestry Service customers. This genetic test detects three selected variants in the BRCA1 and BRCA2 genes – BRCA1 185delAG; BRCA1 5382insC; and BRCA2 6174delT – that are among the most studied and best understood.

Where can I get genetic testing for BRCA gene?

Where can I get this test? The test can be ordered by a healthcare practitioner or genetic counselor. The sample will be sent to a laboratory that specializes in BRCA mutation testing.

When should you get tested for the BRCA gene?

Why do I need a BRCA genetic test?Have or had breast cancer that was diagnosed before age 50.Have or had breast cancer in both breasts.Have or had both breast and ovarian cancer.Have one or more family members with breast cancer.Have a male relative with breast cancer.More items...•

What are BRCA1 and BRCA2 ?

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two...

How much does an inherited harmful variant in BRCA1 or BRCA2 increase a woman’s risk of breast and ovarian cancer?

A woman’s lifetime risk of developing breast  and/or ovarian cancer is markedly increased if she inherits a harmful variant in BRCA1 or B...

What other cancers are linked to harmful variants in BRCA1 and BRCA2 ?

Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers. In women, these include fallopian tube cancer ( 5 , 6 )...

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 (the prevalence ) varies across specific population groups. While th...

Who should consider genetic counseling and testing for BRCA1 and BRCA2 variants?

Anyone who is concerned about the possibility that they may have a harmful variant in the BRCA1 or BRCA2 gene should discuss their concerns wit...

Does health insurance cover the cost of genetic testing for BRCA1 and BRCA2 variants?

People considering BRCA1 and BRCA2 variant testing may want to confirm their insurance coverage for genetic counseling and testing. Genetic c...

What do BRCA1 and  BRCA2 genetic test results mean?

BRCA1 and BRCA2 mutation testing can give several possible results: a positive result, a negative result, or a variant of uncertain significanc...

How can a person who has inherited a harmful BRCA1 or BRCA2 gene variant reduce their risk of cancer?

Several options are available for reducing cancer risk in individuals who have inherited a harmful BRCA1 or BRCA2 variant. These include enhanc...

What are the benefits of genetic testing for BRCA1 and BRCA2 variants?

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...

What does it mean if you have a positive breast cancer test?

A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation. But a positive result doesn't mean you're certain to develop cancer.

What is the risk of inherited mutations in the BRCA gene?

People who inherit mutations in these genes are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test is offered to those who are likely to have an inherited mutation based on personal or family history of breast cancer or ovarian cancer. The BRCA gene test isn't routinely ...

Why do we do a BRCA gene test?

Why it's done. The BRCA gene test is a blood test that's done to determine if you have changes (mutations) in your DNA that increase the risk of breast cancer. Mutations in either breast cancer gene — BRCA1 or BRCA2 — significantly increase the risk of: Breast cancer. Male breast cancer. Ovarian cancer.

What is a personal history of breast cancer?

A personal history of breast cancer and one or more relatives with breast cancer diagnosed before age 50, two or more relatives diagnosed with breast cancer at any age, one or more relatives with ovarian cancer, one or more relatives with male breast cancer, or two or more relatives with prostate cancer ...

What to do if you decide to have a BRCA test?

If you decide to have BRCA genetic testing, prepare yourself for the emotional and social implications that learning your genetic status might have. Test results could also fail to provide you with clear-cut answers regarding your cancer risk, so prepare to face that possibility, too.

What is a personal history of breast cancer diagnosed before age 50?

A personal history of breast cancer diagnosed before age 50 and a second primary breast cancer, one or more relatives with breast cancer, or an unknown or limited family medical history. A personal history of triple negative breast cancer diagnosed at age 60 or younger. A personal history of two or more types of cancer.

What does it mean when you have a positive mutation?

A positive result means you carry a gene mutation that increases your risk of cancer and you can work with your doctor to manage that risk. A negative result may mean that you don't have the mutation or that you might have a gene mutation doctors haven't discovered yet.

What does BRCA1 mean?

The presence of a BRCA1 or BRCA2 mutation means that the person tested is at an increased risk for developing hereditary breast and/or ovarian cancer syndrome. It also indicates that the individual's family members may be at increased risk for breast or ovarian cancer.

How many copies of BRCA1 and BRCA2 are there?

Each person will have two copies of BRCA1 and BRCA2, one copy from each parent. Mutations may be present in either copy of the gene. The DNA in cells is used to detect mutations in the BRCA genes. Cells from the blood or cells from the mouth are the most easily accessible sources of that DNA.

What is the purpose of BRCA1 and BRCA2?

Standard BRCA1 and BRCA2 tests are used to detect mutations that are known to increase the risk of breast and ovarian cancer development. If a BRCA1 or BRCA2 mutation has been identified in a family member with breast and/or ovarian cancer, then that specific mutation can be tested in other family members to assess their risk.

What are the risk factors for BRCA mutation?

Some of the risk factors include: Cancer in both breasts. Breast cancer diagnosed at a young age, before age 50 years. Both breast and ovarian cancers in the same individual, or both breast and ovarian cancers in separate family members.

What are the two genes that suppress cancer?

BRCA1 and BRCA2 are two tumor suppressor genes. Normally, these genes help prevent cancer by producing proteins that suppress abnormal cell growth. Certain changes (mutations) in these genes affect their normal function, thereby potentially allowing cell growth to occur uncontrolled.

What is the risk of breast cancer in women?

According to the National Cancer Institute, estimates of lifetime risk for breast cancer in women are 55% to 65% for BRCA1 mutation and 45% for BRCA2 mutation. Risk of ovarian cancer is 39% with BRCA1 mutation and 11% to 19% with BRCA2 mutation.

How many cancers are caused by BRCA mutation?

As of 2015, studies have found that the BRCA mutation is present in 0.5%-4% of prostate cancers and 5%-8% of pancreatic cancers. However, researchers are still gathering information about how BRCA mutation testing should be incorporated into screening for those cancers.

What are the mutations in the BRCA gene?

BRCA Gene Mutations. Sometimes, changes or “mutations” occur that prevent genes from doing their job properly. Certain mutations in the BRCA genes make cells more likely to divide and change rapidly, which can lead to cancer . All women have BRCA1 and BRCA2 genes, but only some women have mutations in those genes.

How many women have a BRCA1 mutation?

About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene. If either your mother or your father has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation.

Can you get breast cancer from a family history?

If you have a family history of breast cancer or inherited changes in your BRCA1 and BRCA2 genes, you may have a higher breast cancer risk. Talk to your doctor about these ways of reducing your risk—. Antiestrogens or other medicines that block or decrease estrogen in your body.

Does BRCA1 cause breast cancer?

Why BRCA Gene Mutations Matter. Not every woman who has a BRCA1 or BRCA2 gene mutation will get breast or ovarian cancer, but having a gene mutation puts you at an increased risk for these cancers.

What is the BRCA test?

A BRCA genetic test looks for changes, known as mutations, in genes called BRCA1 and BRCA2. Genes are parts of DNA passed down from your mother and father. They carry information that determine your unique traits, such as height and eye color. Genes are also responsible for certain health conditions.

What does it mean when a BRCA test is positive?

You may need more tests and/or monitoring if your results were uncertain. A positive result means a mutation in BRCA1 or BRCA2 was found.

What to do if you have a BRCA mutation?

If your results show you have a BRCA gene mutation, you can take steps that may lower your risk of breast cancer. These include: More frequent cancer screening tests, such as mammograms and ultrasounds. Cancer is easier to treat when it's found in the early stages. Taking birth control pills for a limited time.

Where are BRCA mutations most common?

BRCA mutations are much more common in this group compared to the general population. BRCA mutations are also more common in people from other parts of Europe, including, Iceland, Norway, and Denmark.

How long does it take to get a mutation test?

But not everyone with the mutation gets cancer. It may take several weeks to get your results. If you have questions about your results, talk to your health care provider and/or your genetic counselor. Learn more about laboratory tests, reference ranges, and understanding results.

What to talk about after genetic testing?

Your counselor may talk with you about the risks and benefits of genetic testing and what different results can mean. You should also think about getting genetic counseling after your test. Your counselor can discuss how your results may impact you and your family, both medically and emotionally.

Can a BRCA1 mutation cause cancer?

A mutation in a BRCA1 or BRCA2 gene can cause cell damage that may lead to cancer. Women with a mutated BRCA gene have a higher risk of getting breast or ovarian cancer. Men with a mutated BRCA gene are at a higher risk for getting breast or prostate cancer. Not everyone who inherits a BRCA1 or BRCA2 mutation will get cancer.

What happens if you have a negative BRCA1 and BRCA2 mutation?

If your test result for the BRCA1 and BRCA2 mutations is negative, the genetic counselor will tell you what this means. Your family history will help the genetic counselor understand a negative test result. A negative test result does not mean you will not get cancer.

What does a positive BRCA1 test mean?

Expand Section. A positive test result means you have inherited the BRCA1 or BRCA2 mutation. This does not mean you have cancer, or even that you will get cancer. This means you are at a higher risk of getting cancer. This also means you can or could have passed this mutation on to your children.

What mutations do you get if you have ovarian cancer?

If you have a family member with breast cancer or ovarian cancer, find out if that person has been tested for the BRCA1 and BRCA2 mutation. If that person does have the mutation, you might consider getting tested, too. Someone in your family may have the BRCA1 or BRCA2 mutation if:

How long does it take to get a BRCA1 test?

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.

What is the BRCA1 gene test?

BRCA1 and BRCA2 gene testing. The BRCA1 and BRCA2 gene test is a blood test that can tell you if you have a higher risk of getting cancer. The name BRCA comes from the first two letters of br east ca ncer. What is the BRCA Gene Mutation? BRCA1 and BRCA2 are genes that suppress malignant tumors (cancer) in humans.

Which mutation is more likely to cause cancer?

Melanoma. Men with this mutation are also more likely to get cancer. Mutations may increase a man's risk of developing: Breast cancer. Pancreatic cancer. Testicular cancer. Prostate cancer. Only about 5% of breast cancers and 10 to 15% of ovarian cancers are associated with BRCA1 and BRCA2 mutations.

How many chances do you have to have a mutation to have a child?

Each time you have a child there is a 1 in 2 chance your child will get the mutation you have. When you know you are at higher risk of developing cancer, you can decide if you will do anything differently. You may want to be screened for cancer more often, so it can be caught early and treated.

Maintaining a moderate weight

Increased body weight has links to a higher risk of breast cancer after menopause. The American Cancer Society recommends that people maintain a moderate weight throughout their lives.

Exercising regularly

Regular physical exercise is essential for overall health. A 2013 study shows it has links to a reduced risk of developing breast cancer and the number of deaths.

Limiting alcohol consumption

Excess alcohol consumption has links to an increased risk of developing cancer. The American Cancer Society recommends that women who drink alcohol consume no more than one drink per day.

Frequent screenings

Individuals should discuss their risk factors with a doctor. They can advise people on their risk factors and screening options and help those with a genetic predisposition to breast cancer to manage associated risks.

Taking medication

Those at an increased risk of breast cancer can take medications that either block or decrease the amount of estrogen in the body, which reduces the risk of developing breast cancer.

Overview

  • The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2. People who inherit mutations in these genes are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test ...
See more on mayoclinic.org

Why It's Done

  • The BRCA gene test is a blood test that's done to determine if you have changes (mutations) in your DNA that increase the risk of breast cancer. Mutations in either breast cancer gene — BRCA1 or BRCA2 — significantly increase the risk of: 1. Breast cancer 2. Male breast cancer 3. Ovarian cancer 4. Prostate cancer 5. Pancreatic cancer 6. Melanoma If a gene mutation is detected, you …
See more on mayoclinic.org

Risks

  • There's no medical risk associated with being tested for a BRCA gene mutation other than the slight risks — including lightheadedness, bleeding or bruising — of having your blood drawn. Other consequences surrounding genetic testing include the emotional, financial, medical and social implications of your test results. If you test positive for an inherited genetic mutation, you may f…
See more on mayoclinic.org

How You Prepare

  • The first step in the BRCA gene testing process is to meet with a genetic counselor. As soon as you consider having any genetic test, meet with a genetic counselor to determine whether it's appropriate for you and to discuss the potential risks, limitations and benefits of undergoing genetic testing. The genetic counselor takes a detailed family and medical history, assesses you…
See more on mayoclinic.org

What You Can Expect

  • The BRCA gene test is most often a blood test. A doctor, nurse or medical technician inserts a needle into a vein, usually in your arm, to draw the blood sample needed for testing. The sample is sent to a lab for DNA analysis. In some cases, other sample types are collected for DNA analysis, including saliva. If you have a family history of cancer and are interested in pursuing a saliva DN…
See more on mayoclinic.org

Results

  • It may take a few weeks before test results are available. You meet with your genetic counselor to learn your test results, discuss their implications and go over your options. Your test results may be positive, negative or uncertain.
See more on mayoclinic.org