If Youve Been Diagnosed With Breast Cancer And The Tumor Was Tested For Gene Mutations
Sometimes, breast cancer tissue is checked for tumor gene mutations. Every cell in a breast tumor has genes. These genes contain the blueprints for the cancer.
These gene mutations are in the breast cancer, not in the person. However, sometimes tumor testing finds aBRCA1/2 or other gene mutation in the tumor that could also be an inherited gene mutation. In these cases, genetic testing for the person may be done .
Why Some Women Should Get Retested
Before 2014, most genetic tests for breast cancer looked only at three specific BRCA genes. It has been understood for some time that BRCA1 and BRCA2 genes are those commonly connected to hereditary breast and ovarian cancer. On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80.
Whats changed?
We now do panel testing, which allows us to test for many more genes, Pal says. More and more genes are being identified that are important. And even for genes we know about, we can find more mutations now than we could in the past.
Besides BRCA1 and BRCA2, scientists have identified about a dozen other breast cancer predisposition genes, including ATM, TP53, CHEK2, PTEN, CDH1, STK11 and PALB2. Although variations in those genes are less common, they, too, significantly increase a womans risk of cancer, and women who have them may want to consider more frequent screening or other steps.
Susan Berger, 69, of Glencoe, Illinois, knows firsthand how important retesting can be. She was treated for breast cancer in 1997 and underwent genetic testing in 2009. At the time, she was relieved to learn she didnt have the BRCA gene mutations.
Berger took another genetic test and learned she also carries the PALB2 mutation. That information prompted her in July 2021 to have her ovaries and fallopian tubes removed to prevent cancer from developing. She also plans to have a preventive double mastectomy.
Accuracy Of Familial Risk Assessment
The USPSTF reviewed studies of familial risk stratification tools that could be used in primary care settings to determine the likelihood of potentially harmful BRCA1/2 mutations. These tools are primarily intended for use by health care clinicians untrained in genetic cancer risk assessment to guide referral to genetic counselors for more definitive evaluation. In general, these tools elicit information about factors associated with increased likelihood of BRCA1/2 mutations, including family and personal history of cancer and ancestry . Because risk assessment is primarily based on family history, it is unclear how women with an unknown family history should be assessed for BRCA1/2 mutation risk.
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Genetic Testing For Hereditary Breast And Ovarian Cancer
Genetic testing is available for hereditary breast and ovarian cancer. Most breast and ovarian cancer is not caused by inherited mutations, so genetic testing will not help most women with a family health history of breast and ovarian cancer. Genetic testing will not identify the cause for some hereditary breast and ovarian cancers, because the genes affected in these cancers are not yet known.
Genetic counseling before genetic testing for hereditary breast and ovarian cancer is important to determine whether you and your family are likely enough to have a mutation that it is worth getting tested. Usually, genetic testing is recommended if you have:
- A strong family health history of breast and ovarian cancer
- A moderate family health history of breast and ovarian cancer and are of Ashkenazi Jewish or Eastern European ancestry
- A personal history of breast cancer and meet certain criteria
- A personal history of ovarian, fallopian tube, or primary peritoneal cancer
- A known BRCA1, BRCA2, or other inherited mutation in your family
The BRCA1 and BRCA2 genes
Genetic counseling after genetic testing is important to help you understand your test results and decide the next steps for you and your family:
Genetic Risk Factors For Hereditary Breast Cancer
Inherited mutations are responsible for a small percentage of breast cancers. Only 5-10 percent of cases in the U.S. are linked to a gene mutation. Half of these cases are caused by mutations in BRCA1 or BRCA2. Knowing your family medical history can help you assess whether you are likely to carry one of these genes. These statistics include both female and male breast cancer.
Other genes whose mutations are involved in an increased risk of breast and other forms of cancer are:
- ATM
- STK11
- TP53
These genes are less common than BRCA1/2, and theres still a lot to learn about them.
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What Is The Role Of Genetic Counseling In Genetic Testing For A Hereditary Cancer Syndrome
Genetic counseling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counseling should be performed by a trained genetic counselor or other health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:
- The appropriateness of genetic testing and potential harms and benefits of testing
- The medical implications of positive, negative, and uncertain test results
- The possibility that a test result might not be informative
- The psychological risks and benefits of genetic test results
- The risk of passing a variant to children
- The impact of testing for the family
- The best test to perform
Genetic counseling may also include discussing recommendations for preventive care and screening with the patient, referring the patient to support groups and other information resources, and providing emotional support to the person receiving the results.
Talking To Your Family After A Positive Genetic Result
If youve had a positive genetic result, it is very important to talk to your family about your result because first degree relatives will have a 50% chance of inheriting the same altered gene. If they are aware of this they have the chance to make choices about having their own risk assessed and managing any risk.
Your genetic counsellor can help you work out the best way to do this. They may have prepared letters that you can adapt and send to your relatives. You may feel it would be better to tell your relatives face to face, or you may prefer to phone or email them.
Their reactions may vary. It may come as a complete shock to them. Some relatives may choose to ignore the result and may even find it difficult to talk to you afterwards. Others will be glad that you have warned them about the possibility that they may have inherited an altered gene and will then want to have a genetic test themselves.
No one is to blame for the genes they inherit or pass on, but telling your family that they may have inherited an altered gene will give them the option to discuss the possibility of genetic testing and manage their own risk.
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Should I Be Tested For Genetic Mutations
At-risk families can take blood tests to look for mutations in these genes.
You may want to discuss genetic testing with your doctor if:
- You have two or more blood relatives — mother, sister, aunt, cousin, or daughter — with premenopausal breast cancer or ovarian cancer diagnosed at any age.
- You were diagnosed with breast cancer, especially before menopause, and have a blood relative with breast or ovarian cancer.
- You were diagnosed with ovarian cancer and you have blood relatives who have had ovarian or breast cancer.
- A male in your family has or had breast cancer.
- You or a family member has been diagnosed with bilateral breast cancer .
- You were diagnosed with triple-negative breast cancer before the age of 60.
- You are related to someone who has a BRCA1 or BRCA2 mutation.
- You are of Ashkenazi Jewish descent and have had breast or ovarian cancer or have blood relatives who have had breast or ovarian cancer.
Continued
Family History Screening And Risk Assessment
Mutations in the BRCA genes cluster in families, exhibiting an autosomal dominant pattern of transmission in maternal or paternal lineage. During standard elicitation of family history information from patients, primary care clinicians should ask about specific types of cancer, primary cancer sites, which family members were affected, relatives with multiple types of primary cancer, and the age at diagnosis and sex of affected family members.
For women who have at least one family member with breast, ovarian, or other types of BRCA-related cancer, primary care clinicians may use one of several brief familial risk stratification tools to determine the need for in-depth genetic counseling.
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Disadvantages Of Genetic Testing
Some people dont undergo testing because they dont want to know if they have mutations, while others who do have testing may experience guilt if they dont have the mutations that impact family members, Beitsch noted.
The problem with genetic testing is not over testing, it is under testing, Beitsch said. Theyve found less than 10 percent of people with BRCA1 and BRCA2 variants, and much less than that for the other 30+ genes linked to cancer.
However with increased testing, we must provide education and tools for testing and interpretation to physicians to ensure management is optimized, lives are saved, and genetic mismanagement is minimized, he added.
With test costs declining and hopefully more people given the opportunity to undergo testing, more people can take preventative action to minimize their cancer risk through prevention or early diagnosis options, Manchanda said.
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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What Are Some Of The Possible Harms Of Genetic Testing For Inherited Cancer Susceptibility Syndromes
Genetic testing can have potential emotional, social, and financial harms, including:
- Psychological stress of learning that one has a genetic variant that increases cancer risk and having to decide whether to share those findings with blood relatives
- An uninformative test results, such as a report of a variant of uncertain significance , increases uncertainty and may increase stress until results are clarified
- Survivor guilt upon learning that one doesnt have a harmful variant that is present on other members of the family
- Cost of testing itself and additional follow-up testing, if not covered by insurance
- Privacy and discrimination issues
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 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.
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The Brca1/brca2 Genetic Health Risk Report Is Not A Comprehensive Cancer Screening Test
More than 1,000 variants in the BRCA1 and BRCA2 genes are known to increase cancer risk.
Our Genetic Health Risk report focuses on only three out of the more than 1,000 risk variants that are among the most studied and best understood. These three variants are most common in people of Ashkenazi Jewish descent and are much less common in people of other ethnicities.
The First And Only Direct
23andMe offers a genetic test for three variants in the BRCA1 and BRCA2 genes to its Health +plusAncestry 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. These three variants are most common in people of Ashkenazi Jewish descent. If you have one of these three variants, you have an increased risk of developing certain cancers.
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Why Genetic Testing For Breast Cancer
If your grandmother or your mother had breast cancer, you cant help but wonder if you will develop it too. In an attempt to reduce their chances, some women take a step ahead and undergo preventive surgery. But do you need genetic testing to find out your risk of ever developing cancer?
We mentioned above that genetic counseling with an expert is necessary even before taking the test. The following are some other points that will help you decide if genetic testing is for you.
Benefits Of Testing For Potentially Harmful Brca Mutations
For women whose family history is associated with an increased risk of potentially harmful mutations in the BRCA1 or BRCA2 gene, adequate evidence suggests that the benefits of testing for potentially harmful BRCA mutations are moderate.
For women whose family history is not associated with an increased risk of potentially harmful mutations in the BRCA1 or BRCA2 gene, there is adequate evidence that the benefits of testing for potentially harmful BRCA mutations are few to none.
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How Does Genetic Testing For Breast Cancer Work
Genetic testing for breast cancer risk typically uses a sample of blood, saliva, or cells from the inside of your cheek. After the sample is collected, its sent to a lab specializing in genetic testing to be analyzed.
Several gene variations that increase breast cancer risk have been found. The most important are those in the BRCA1 and BRCA2 genes. According to the National Cancer Institute, about 1 in 400 people have a harmful BRCA variation.
About 55 to 72 percent of females with harmful BRCA1 and 45 to 69 percent of females with harmful BRCA2 variations will develop breast cancer by age 80. Their risk of getting breast cancer in the other breast is also higher.
Other gene variants that may raise breast cancer risk include:
- PALB2
- PTEN
- TP53
Gene variations that can be detected may vary by test. For example, some tests may only cover the most common variations, while others may be more extensive.
Once your sample is submitted, youll receive your results in 2 to 4 weeks. A healthcare professional or genetic counselor will contact you and discuss your results.
Results you can receive include:
- Positive: A known gene variation that increases your risk of breast cancer was detected.
- Negative: A known gene variation that raises your risk of breast cancer was not detected.
- Variant of unknown significance: A variant has been found in a gene, such as BRCA1 or BRCA2, but its impact on breast cancer risk is currently unknown.
What Are The Benefits Of Genetic Testing
For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.
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Whats The Role Of A Genetic Counselor
Most people are referred to a genetic counselor by their physician or an advanced practitioner, such as a physicians assistant or a nurse practitioner.
Genetic counselors dont recommend testing. Our role is to perform a risk assessment and review the reasons people may or may not be interested in genetic counseling to empower them to make a decision thats right for them.
During pre-test counseling, genetic counselors:
- Discuss genetics and the connection to cancer
- Review your personal and family history information to assess the likelihood that genetic testing may find an inherited risk
- Prepare you for what genetic testing may or may not find and the potential consequences of the results
- Review reasons people may decline genetic testing
Should you choose to go ahead with genetic testing, we discuss your results and their potential consequences during a post-testing counseling session.
If we find a mutation, we discuss your options, according to the medical guidelines for that specific mutation, to help you determine your next steps. If youre a patient at CTCA, we work with your medical team to outline the guidelines to be considered going forward.