Stage : A Full Screen
The first stage involves testing a relative who has had cancer to try to find out if a known altered gene runs in the family.
This will usually be a relative who has had breast or ovarian cancer, but in some cases it might be a relative who has had prostate cancer.
Altered genes can be difficult to find. Theres a better chance of finding an altered gene in someone who has already been diagnosed with breast or ovarian cancer.
A blood sample is taken and sent to a laboratory to be tested for known altered genes.
If you have had breast or ovarian cancer, you can have the test yourself.
In rare circumstances, if no relatives are available for testing and you have not had cancer, you may be able to have the test yourself. Your genetics team will tell you if this is an option.
Results are usually available within one to three months. Your genetics team will let you know how the results will be given to you. You may have a clinic appointment, a telephone call or have the results sent in the post.
There are three possible outcomes.
A positive result
If an altered gene is found , this confirms your chances of developing breast cancer are higher than the general population.
Your genetics team will know which gene runs in your family. They can then search for the alteration more easily in other family members, who can be tested to see if they also carry it .
A negative result
A negative result means a known altered gene was not found.
A variant of unknown significance
Inherited Gene Mutations That Increase Breast Cancer Risk
Most women who get breast cancer dont have an inherited gene mutation.
In the U.S., 5-10 percent of breast cancers are linked to an inherited gene mutation . About half of these breast cancers are linked to a BRCA1 or BRCA2 gene mutation .
The lifetime risk of breast cancer is increased 20-49 percent for women with moderate-risk inherited gene mutations and 50 percent or more for women with high-risk inherited gene mutations.
Inherited mutations in any of these genes can increase the risk of breast cancer:
Most of these gene mutations also increase the risk of other cancers.
BRCA1/2 gene mutations are the most well-known of these high-risk gene mutations. The others are less common and theres still much to learn about them. Most dont increase the risk of breast cancer as much as BRCA1/2 gene mutations do.
Some inherited gene mutations have only recently been shown to increase the risk of breast cancer. Data on these mutations and their related cancer risks are still emerging and will likely change over time.
Learn more about inherited gene mutations and breast cancer risk.
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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A Genetic Counselor Weighs In On Genetic Testing For Breast Cancer
When Angelina Jolie discovered through genetic test results that she inherited the BRCA1 genetic mutation, her decision to have a preventative double mastectomy made headlines in 2013. Her frank message to the public explaining her decision helped increase awareness of the connection between certain genetic mutations and the increased risk of hereditary breast cancer and ovarian cancer. Many women considered what they would do in her shoes.
Approximately 281,550 women will be diagnosed with breast cancer in 2021 in the United States, according to the National Cancer Institute , making it the second most common cancer in women. Approximately 5 to 10 percent of those diagnoses are caused by hereditary factors.
The average woman has an approximately 13 percent chance of developing breast cancer during her lifetime. But if youre one of the 1 in 500 women who carry a BRCA gene mutation, your lifetime risk rises to about 70 percent. Many women wonder whether genetic testing for breast cancer is something they need or should consider.
Genetic testing looks for an inherited susceptibility or predisposition for cancer. It may identify an increased risk of developing a first or second cancer in a persons lifetime, but its not a guarantee of present or future cancer.
Is Genetic Testing For Breast Cancer Worth It
In summary, genetic testing is beneficial to anyone with a family history of breast or ovarian cancer. The BCRA1 and BCRA2 genes normally protect you from getting these cancers, however, a mutation in these genes can prevent them from working properly. Genetic testing can help you and your family determine a gene mutation, which can help you decide what kind of testing and surveillance is needed to monitor your current status.
A positive result for gene mutation doesnt always mean you will get breast cancer. However, it is helpful to know so that you may monitor yourself closely. Testing can also help other members of your family in knowing what steps they should take in their own cancer screening decisions.
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Advantages Of Genetic Testing
Depending on the testing company, testing for cancer genes with expanded panels can cover anywhere from 30 to more than 80 genes. It can identify other organs that may be at risk for cancer, such as pancreatic cancer or melanoma. It can also pinpoint others in a family who may harbor mutations.
They can then be watched more closely or even undergo prophylactic surgery to prevent them from getting a cancer, Beitsch explained.
After unilateral breast cancer, mutation carriers can choose to have a mastectomy on the affected breast, or preventative mastectomy of the second breast to reduce their risk for cancer in that breast, Manchanda explained.
Additionally they can opt for a surgical ovarian cancer intervention. People who have the genes may also be eligible for novel drugs or other drug therapies through clinical trials.
A major advantage of genetic testing is enabling testing relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention, Manchanda said.
Testing everyone instead of being restricted by family history will identify many more mutation carriers and their family members who can benefit from precision prevention. A large proportion of these cancers are preventable in known unaffected mutations carriers, he added.
American Cancer Society Screening Recommendations For Women At Average Breast Cancer Risk
The COVID-19 pandemic has resulted in many elective procedures being put on hold, and this has led to a substantial decline in cancer screening. Health care facilities are providing cancer screening during the pandemic with many safety precautions in place. Learn how you can talk to your doctor and what steps you can take to plan, schedule, and get your regular cancer screenings in Cancer Screening During the COVID-19 Pandemic.
These guidelines are for women at average risk for breast cancer. For screening purposes, a woman is considered to be at average risk if she doesnt have a personal history of breast cancer, a strong family history of breast cancer, or a genetic mutation known to increase risk of breast cancer , and has not had chest radiation therapy before the age of 30.
Women between 40 and 44 have the option to start screening with a mammogram every year.
Women 45 to 54 should get mammograms every year.
Women 55 and older can switch to a mammogram every other year, or they can choose to continue yearly mammograms. Screening should continue as long as a woman is in good health and is expected to live at least 10 more years.
All women should understand what to expect when getting a mammogram for breast cancer screening what the test can and cannot do.
Clinical breast exams are not recommended for breast cancer screening among average-risk women at any age.
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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.
How Is This Test Different From Other Gene Tests
Genetic tests typically focus on the known BRCA1, BRCA2, and PALB2 genes, which are linked to an increased breast and ovarian cancer risk. But there are genetic tests that focus on other gene tests, such as HER2, which can play a role in the development of breast cancer. HER2 testing of a tumor can tell you whether this gene has an abnormal change that is helping the cancer grow.
Oncotype DX and Foundation One CDx tests analyze the activity of multiple genes that can affect how a cancer is likely to behave and respond to treatment. The results can help guide treatment choices.
These tests sometimes called somatic tests or genomic tests look for abnormal gene changes in the tumor tissue that lead to the development of cancer. These mutations happen on their own over time they dont run in families and you cant pass them on to your children.
In contrast, hereditary tests for BRCA1, BRCA2, and other mutations look for gene changes that are present in multiple members of a single family. People are born with these mutations in cells throughout their bodies. Thats why these tests can use a blood or saliva sample or a swab of cells from the inside of your cheek.
Also, if youve used a hereditary genetic testing kit on your own, it makes sense to let your genetic counselor know. These kits dont always include the full range of mutations that can be associated with inherited breast cancer risk.
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If You Have A Family History Of Breast Cancer You May Also Be At Higher Risk Of Developing The Disease This Knowledge Can Boost Surveillance And Prevention Efforts
One in 8 American women will be diagnosed with breast cancer in her lifetime. Among all cases, about 10 percent are caused by the inherited genetic alterations BRCA1 and BRCA2.
But many at-risk women dont know theyre predisposed.
Thats where genetic testing can play a role, says Sofia Merajver, M.D., Ph.D., director of the Breast and Ovarian Cancer Risk and Evaluation Program at the University of Michigan Rogel Cancer Center.
Identifying whether your risk is increased by the presence of these alterations can prompt proactive surveillance, medication or surgery.
To act on potential high-risk mutations that you may carry is the No. 1 way to help prevent undesirable outcomes from cancer, Merajver says.
She answered common questions about the practice:
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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How Genetic Testing Is Done
Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek. The samples are sent to a lab for testing.
There are many different possible mutations in the BRCA genes. Testing can look for one specific mutation, or more extensive testing can be done to look for many different BRCA mutations. For example, if someone is being tested because they have a family member with a known BRCA mutation, testing might focus only on that specific mutation. In people of Ashkenazi Jewish descent, testing might focus on the specific BRCA mutations that are most common in this group of people. But if theres no reason to suspect a specific gene change, testing will likely look for many different BRCA mutations. Depending on the situation, testing might be done to look for changes in other genes as well.
Consent For Genetic Testing
Before getting a genetic test, you must first sign an informed consent document. This document confirms that you agree to be tested and you fully understand the tests benefits and risks.
Many testing centers require you to participate in a genetic counseling session before and after testing. Even if genetic counseling sessions are not required, its a good idea to ask for them. A genetic counselor can discuss the tests benefits and risks with you and give you additional information to review.
The main benefit of testing is knowledge. If your genetic test is negative for an abnormal BRCA1, BRCA2, or PALB2 gene that you know is present in your family, then you know you are not at high risk because of a mutation in any of those genes. But you could still be at high risk because of an abnormality in an inherited gene that has not yet been linked to breast cancer or ovarian cancer. This is especially possible if a close family member has been diagnosed with breast or ovarian cancer that is not linked with mutations in these three known genes. If your genetic test is positive, you can take steps to prevent breast or ovarian cancer or try to catch these cancers early if they do develop.
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What To Do If Your Genetic Test Results Are Positive
People who test positive for an abnormal BRCA1, BRCA2, or PALB2 gene and have never been diagnosed with breast cancer have a much higher-than-average risk of developing the disease.
The average lifetime risk of breast cancer for women is about 12%. Women with a BRCA1 or BRCA2 mutation have up to a 72% risk of developing breast cancer in their lifetime about 6 times higher than women who do not have the mutation. Lifetime risk of ovarian cancer is significantly elevated as well: 17% to 44%, versus just under 2% for the general population.
Men with BRCA abnormalities have a higher lifetime risk of male breast cancer, especially if the BRCA2 gene is affected. One study found that men with a BRCA2 mutation have a 7% lifetime risk of developing breast cancer. They also are at increased risk of developing prostate cancer.
Women with an abnormal PALB2 gene have a 33% to 58% lifetime risk of developing breast cancer. Researchers believe that people with an abnormal PALB2 gene may have an increased risk of developing male breast cancer, pancreatic cancer, and ovarian cancer, but are still investigating the exact degree of increase. Research on the PALB2 gene continues.
Regardless of gender, testing positive for a BRCA1, BRCA2, or PALB2 abnormality means there is a 50% chance you could pass the cancer-related mutation on to any children you may have.
Learn more about Prophylactic Mastectomy.
Learn more about Prophylactic Ovary Removal.
What A Positive Result Means
If your predictive genetic test result is positive, it means you have a faulty gene that raises your risk of developing cancer.
It does not mean you are guaranteed to get cancer your genes only partly influence your future health risks. Other factors, such as your medical history, lifestyle and your environment, also play a role.
If you have one of the faulty BRCA genes, there is a 50% chance you will pass this on to any children you have and a 50% chance that each of your siblings also has it.
You may want to discuss your results with other members of your family, who may also be affected. Staff at the genetics clinic will discuss with you how a positive or negative result will affect your life and your relationships with your family.
You can read more about BRCA1 and BRCA2 in the beginner’s guide to BRCA1 and BRCA2 produced by The Royal Marsden NHS Foundation Trust.
Insurance companies cannot ask you to disclose the results of predictive genetic tests for the majority of policies, but this may change in the future.
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