How It Is Done
The health professional taking a sample of your blood will:
- Wrap an elastic band around your upper arm to stop the flow of blood. This makes the veins below the band larger so it is easier to put a needle into the vein.
- Clean the needle site with alcohol.
- Put the needle into the vein. More than one needle stick may be needed.
- Attach a tube to the needle to fill it with blood.
- Remove the band from your arm when enough blood is collected.
- Put a gauze pad or cotton ball over the needle site as the needle is removed.
- Put pressure on the site and then put on a bandage.
How Much Does Genetic Testing Cost
According to Breastcancer.org, the cost of genetic testing for cancer can vary greatly and can be between $300 and $5,000. How much genetic testing costs can depend on the type of test as well as how complex it is.
What exactly is covered will depend on your specific health insurance plan. Many plans will offer some coverage if genetic testing is considered medically necessary.
If youre considering genetic testing for cancer, contact your insurance provider before getting tested. They can help inform you about what is and isnt covered.
Recently, home-based genetic testing has increased in popularity. These tests typically involve using a swab to collect a sample from your mouth. You then mail this sample back and get your results by:
- secure website
You may be curious if home-based genetic tests are good for determining your cancer risk.
Overall, its best to talk with a healthcare professional if youre interested in genetic testing to assess your cancer risk. Some reasons for this include:
What Is Breast Cancer Staging
To determine the stage of your cancer, doctors look at how large your tumor is, where it is, and if it has spread. They also look at your medical history, physical exams, diagnostic tests, and tests of your tumor and lymph nodes.
- Early-stage breast cancer includes stages 0, I, II and IIIA .
- In stage 0, there are abnormal cells in the ducts or lobes of the breast. They have not broken through the wall of the duct or spread.
- In stages I, II, and IIIA, there is a tumor. It may have spread to lymph nodes under the arm, but it has not spread anywhere else.
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Online Tools To Help You Talk With Your Health Care Provider
There are a few online tools to help you talk with your health care provider about your risk of having a BRCA1/2 inherited gene mutation and your risk of breast cancer.
Keep in mind online tools cant tell you whether or not you have a BRCA1/2 gene mutation or if you will get breast cancer. However, they may help you talk with your health care provider or a genetic counselor about these risks.
What Are The Benefits Of Genetic Testing For Cancer
Genetic testing for cancer can have several potential benefits. These can include:
- Peace of mind. If a certain type of cancer runs in your family, a negative test result can give you peace of mind that you havent inherited certain variants.
- Preventative actions. Learning that you have a variant that increases your cancer risk can help you to take preventative steps early and look out for potential cancer symptoms, if they develop.
- Family testing. Its possible that immediate family members can learn about their cancer risk from your results. It may also encourage them to get tested.
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How Much Does An Inherited Harmful Variant In Brca1 Or Brca2 Increase A Womans Risk Of Breast And Ovarian Cancer
A womans lifetime risk of developing breast and/or ovarian cancer is markedly increased if she inherits a harmful variant in BRCA1 or BRCA2, but the degree of increase varies depending on the mutation.
Breast cancer: About 13% of women in the general population will develop breast cancer sometime during their lives . By contrast, 55%72% of women who inherit a harmful BRCA1 variant and 45%69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 7080 years of age . The risk for any one woman depends on a number of factors, some of which have not been fully characterized.
Like women with breast cancer in general, those with harmful BRCA1 or BRCA2 variants also have an increased risk of developing cancer in the opposite breast in the years following a breast cancer diagnosis . The risk of contralateral breast cancer increases with the time since a first breast cancer, reaching 20%30% at 10 years of follow-up and 40%50% at 20 years, depending on the gene involved.
Ovarian cancer: About 1.2% of women in the general population will develop ovarian cancer sometime during their lives . By contrast, 39%44% of women who inherit a harmful BRCA1 variant and 11%17% of women who inherit a harmful BRCA2 variant will develop ovarian cancer by 7080 years of age .
A Cancer Prevention Plan For Women
Finding cancer early improves your chances of successful treatment and long-term survival.
- lumps, sores or ulcers that dont heal
- unusual changes in your breasts lumps, thickening, unusual discharge, nipples that suddenly turn inwards, changes in shape, colour or unusual pain
- coughs that dont go away, show blood, or a hoarseness that persists
- weight loss that cant be explained
- any loss of blood, even a few spots between periods or after they stop
- moles that have changed shape, size or colour, or an inflamed skin sore that hasnt healed
- blood in a bowel motion
- persistent changes in toilet habits
- persistent abdominal pain or bloating.
Symptoms often relate to more common, less serious health problems. However, if you notice any unusual changes, or symptoms persist, visit your doctor.
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What Are Brca1 And Brca2
BRCA1 and BRCA2 are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genesone copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful variants , cancer can develop.
People who inherit harmful variants in one of these genes have increased risks of several cancersmost notably breast and ovarian cancer, but also several additional types of cancer. People who have inherited a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at younger ages than people who do not have such a variant.
A harmful variant in BRCA1 or BRCA2 can be inherited from either parent. Each child of a parent who carries any mutation in one of these genes has a 50% chance of inheriting the mutation. Inherited mutationsalso called germline mutations or variantsare present from birth in all cells in the body.
Even if someone has inherited a harmful variant in BRCA1 or BRCA2 from one parent, they would have inherited a normal copy of that gene from the other parent . But the normal copy can be lost or change in some cells in the body during that persons lifetime. Such a change is called a somatic alteration. Cells that dont have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer.
Should I Get Genetic Testing For Cancer Risk
Genetic testing is a hot topic and can be used to learn about inherited cancer risk. But there are many things to think about before you do it. If you have any indications that suggest you might benefit from testing , talk with your health care provider and plan to meet with a genetic counselor so you know what to expect.
Here are some of the things you should discuss and consider before testing.
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Who Should Be Tested For Genetic Breast Cancer Risk
Ninans recommendation to anyone who suspects he or she might be carrying a gene that increases cancer risk: Start with genetic counseling.
Deciding to undergo the testing is a big decision, and not an easy choice to make. It is important to consider the potential impact of test results on your well-being, your career, your family and other aspects of your life, she explains.
Knowing the results could affect your health and affect other family members, including your siblings and children. For instance, someone with a genetic mutation has about a 50% chance of passing that trait to his or her children.
Ninan says the guidelines for who should be tested change over time, but in general, your doctor might want to discuss gene testing with you if:
- Someone in your family has tested positive for carrying a mutated gene.
- You are of Ashkenazi Jewish ancestry.
- You were diagnosed with breast cancer before age 50.
- A man in your family has been diagnosed with breast cancer.
- You were diagnosed with ovarian cancer.
- There are multiple breast cancers on one side of your family.
- You or a relative has had cancer diagnosed in both breasts.
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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Is Genetic Testing Accurate
Genetic testing isnt perfect. If you do receive a positive test result for a specific gene variant, it doesnt mean that youll develop cancer. It just means that your risk of developing cancer is increased.
Additionally, remember that all cancers are different. Because of this, different types of variations are associated with different levels of risk. Your genetic counselor will discuss this with you when you get your results.
Meeting with your healthcare professional or genetic counselor after receiving your result is very important. They can explain what exactly your results mean as well as talk through potential next steps with you.
Why Breast Cancer Screening Matters
The sooner breast cancer gets diagnosed, the better your odds of getting successful treatment.
Thats why itâs important to get mammograms as recommended, to be familiar with how your breasts usually look, and to report any changes to your doctor ASAP. Why?
- Breast cancer risk is up: The lifetime risk of a woman getting breast cancer in the U.S. was around 5%, or 1 in 20, in 1940. Now itâs 12%, or more than 1 in 8.
- Finding breast cancer earlier boosts your survival odds: Women who have breast cancer screening mammograms are much less likely to die from the disease. This depends on:
- The quality of the test
- Getting screened as often as you need to
- Following your treatment plan if you get diagnosed
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Variant Of Uncertain Significance
A VUS test result is not conclusive. However, most of the time, minor changes in a gene turn out to be normal variants. Most VUS results do not impact the genes ability to work, meaning they dont increase the risk of breast cancer. VUS results are usually treated similar to negative results.
VUS results are much more common with expanded panel testing than with BRCA1/2 genetic testing. Panel testing looks at many genes . With more genes in the test, its more likely youll get a VUS.
Over time, the lab may clarify the meaning of the VUS and send an updated test report to the health care provider who ordered the test. You should be notified if the VUS gets updated.
You can also check with the health care provider who ordered the test every 1-2 years to see if there is any new information about the VUS. While this may seem like a long time to wait, the information isnt likely to change very often.
A VUS test result can be confusing. If you have any questions about a VUS result, meet with a genetic counselor to go over the results.
When May Genetic Testing Be Considered
Although some people dont meet the criteria above for recommended genetic testing, genetic testing may still be appropriate. Genetic testing may be considered for people with :
- A personal history of bilateral breast cancer , first diagnosed at age 50-65
- Ashkenazi Jewish heritage
- A 2½ 5 percent chance of having a BRCA1/2 inherited gene mutation, based on risk assessment models that use family history to estimate risk
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Emotional Risks For Family Members
Genetic testing may also have an emotional impact on family members.
Your genetic counselor may suggest you talk to your family about BRCA1/2 or expanded panel testing before you get tested or before you learn your results. That way you can find out if they want to know about your results.
For people with a BRCA1/2 or other high-risk inherited gene mutation, figuring out how to tell relatives can be hard.
Some family members may value the option of BRCA1/2 or panel testing. Others may be upset, anxious or angry about hearing the news.
If you have concerns about the best way to share the news with your family members, talk with a genetic counselor. You may prefer to write a letter to your relatives , especially if you have a big family. Your genetic counselor may be able to help you write this letter.
What Is A Strong Family History
Associate Professor Kirk said a strong family history is when there are three or more affected family members on one side of the family. However sometimes an individual will not know this information, or their family is predominately male. Associate Professor Kirk said in these instances, there are other factors that come into play.
There are other things that we might look for, and they would include: early age at breast cancer diagnosis, the presence of triple negative breast cancer in a young woman, less than 50 years of age at diagnosis, ovarian cancer specifically high grade, invasive epithelial ovarian cancer. Most women with that type of cancer is now offered a genetic test, she said.
Associate Professor Kirk said it is standard practice to first test the genetics of a family member who has been affected by breast cancer and then subsequently decide if it is worth testing other family members.
You can still choose to be tested if your immediate affected family member has died or is not in a position to be tested.
However, Associate Professor Kirk said the information gained from the test can only be used in individual instances and cannot tell the story for the whole family.
The thing is if you find nothing in that women, thats quite reassuring but you still dont know whether there is a genetic fault in the family.
Associate Professor Kirk said it is also a misconception that inherited genetic mutations are more common on the mothers side of the family.
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Affordable Care Act Coverage
The Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs .
If you have a BRCA1/2 inherited gene mutation, the Affordable Care Act also requires coverage of counseling to help you decide if taking a medication to lower the risk of breast cancer is right for you.
What Testing Involves
There are usually 2 steps to genetic testing:
When there are no affected relatives available, full testing of BRCA1 and BRCA2 may be possible for those with at least a 10% chance of having a faulty gene. This usually means having a very strong family history of early onset breast and particularly ovarian cancer. It can take 4 to 8 weeks or longer to get the result.
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Who Should Be Tested
Genetic testing is only appropriate for a small number of individuals referred to family cancer clinics . Women aged 70 or younger who are diagnosed with ovarian cancer can also receive genetic testing to look for BRCA1 and BRCA2 gene mutations.
The process involves taking blood from the person who has a specific cancer.
Testing may take considerable time. If the faulty gene causing the cancer is found, testing may be offered to other family members who have no signs of cancer.