Wednesday, February 28, 2024
HomeNewsWhat Is Genetic Testing For Breast Cancer

What Is Genetic Testing For Breast Cancer

Health & Wellnessmore Than Brca: The Other Life

Genetic Testing for Breast Cancer

In total, there are 11 breast cancer predisposition genes, with BRCA1 and BRCA2 carrying the highest risk.

Genetic testing used to be costly, and require doctors orders and appointments. But anyone can now buy a fairly inexpensive testing kit online and receive some answers without leaving home as part of a growing industry known as direct-to-consumer genetic testing.

It usually means providing a saliva sample and sending it back to the company for lab analysis, with the results accessible via a secure online portal or sent in a letter. Depending on the company, a physician doesnt necessarily have to be involved to order the kit or get the findings.

Testing Cancer Cells For Genetic Changes

Sometimes after a person has been diagnosed with cancer, the doctor will do tests on a sample of cancer cells to look for certain gene changes. These tests can sometimes give information on a persons outlook and help tell whether certain types of treatment might be useful.

These types of tests look for acquired gene changes only in the cancer cells that are taken from the patient. These tests are not the same as the tests used to find out about inherited cancer risk.

For more about this kind of testing and its use in cancer treatment, see our information on specific types of cancer.

The Ethical Relevance Of The Different Ways In Which People Are Approached

The distinction between testing and screening has an ethical importance from the point of view of autonomy. In ordinary health care, the individual seeks health care to have a problem remedied. This is at the initiative of the person herself. All follow up testing and treatment are supposed to be decided upon in a dialogue with the patient according to that patients needs and desires . In population screening, contrarily, there is a standard testing offered to all within the screening program. Besides the challenge of tailored screening to the individual patients needs and desires, this carries with it some pressure to accept the offer to start with: why would testing be offered unless there is a reason to accept it ?

In cascade screening, the situation is analogous to population screening in the sense that relatives have not themselves approached health care to find out their risk of BC. This is, then, a disadvantage in terms of autonomy compared to the ordinary situation where the individual takes the initiative to seek out health care. Moreover, there are some downsides with cascade screening from the point of view of autonomy as such screening differs from population screening as the risk, quite naturally, is higher. This is the defining characteristic of the targeted population, because of their increased risk based upon the fact that one of their relatives had tested positive for a pathogenic variant.

Don’t Miss: Where Does Breast Cancer Usually Spread

If You Were Diagnosed With Breast Cancer In The Past

If you were diagnosed with breast cancer in the past and were only tested for BRCA1/2 inherited gene mutations , the NCCN recommends you consider expanded panel testing.

Testing may give you information about your risk of developing another cancer.

Panel testing may also help your family members better understand their risk of breast cancer and other cancers. In some cases, panel testing may help tailor their cancer screening.

In most cases, genetic testing results wont likely impact your breast cancer treatment or follow-up care. However, people with metastatic breast cancer who have a BRCA1/2 gene mutation may have a PARP inhibitor drug included in their treatment plan .

Talk with your health care provider or a genetic counselor about whether it would be useful to have panel testing.

Understanding The Genes Linked To Breast Cancer

Chromosomal Differences

BRCA1 and BRCA2 are the two most well-known genes whose hereditary mutations increase the risk of developing breast cancer. However, you should know that most cancers are not passed from parent to child. But what if you take a genetic test and this one comes out positive? What does it mean?

When a woman is found with abnormalities in BRCA1 or BRCA2 genes, she is usually diagnosed with Hereditary Breast and Ovarian Cancer syndrome. This essentially means that she has an 87% chance of developing cancer.

Preventative measures are then put into place. These include an annual breast MRI for women aged 25 to 29 and alternating with yearly mammograms once they turn 30.

Removing breast tissue or prophylactic bilateral mastectomy is an option for breast cancer management. It reduces your chances of ever developing it by 95%.

Learn more about BRCA1 and BRCA2 in this article about genetic cancer testing.

You May Like: How Do You Know You Have Breast Cancer

What Are The Benefits And Risks Of Genetic Testing

Through genetic testing, we can determine how your genes may influence the potential development of cancer for you and individuals in your family. If we learn through genetic testing that you have a hereditary predisposition, there may be proactive ways to reduce your risk of a breast cancer recurrence or lower the risk that you will develop another type of cancer.

It is important to remember that knowledge is power. Gathering information about a potential genetic mutation can empower you to make decisions regarding your health.

What To Know About Genetic Testing For Breast Cancer


Ask a Doctor is PEOPLEs series getting you the answers to the medical, health and personal questions that you always wanted to know but werent sure who to ask.

As Breast Cancer Awareness month kicks off in October, its an important time to revisit the screening methods available to help detect the disease early which can be critical in successfully fighting it, as early detection is linked to higher survival rates at five and 10 years out from first diagnosis. In addition to studying the warning signs of breast cancer so you can recognize any changes in your own breasts, mammograms are probably the most common and well-known method of detection however, sonograms and even MRIs can be used to find tumors.

Doctors also may recommend that higher-risk individuals get genetically tested for breast cancer, as there are a few genetic mutations that, if present, indicate a higher chance of developing breast cancer later on.

Genetic testing has become much more advanced and more widely available, and the costs have plummeted over time, explains Lisa Newman, MD, chief of breast surgery at Weill Cornell Medicine and NewYork-Presbyterian Hospital. Its really wonderful to have access to that information.

So how do you know if you should get tested? PEOPLE spoke with top cancer doctors to find out what you need to know.

Don’t Miss: Can Thyroid Cancer Spread To Breast

How Much Does The Test Cost

The cost of BRCA gene mutation testing varies depending upon what lab is used, and how broad the test is. Some tests look only for a mutation known to run in your family. Others look for a much wider range of mutations. The cost of testing ranges from under $100 to over $2000.

If a doctor or genetic counselor orders genetic testing for you, your insurance usually covers the cost. Depending on your specific situation and health care plan, you may or may not be responsible for some out-of-pocket costs, such as copays and deductibles. If you do not have health insurance, you may still be able to get testing if your primary care provider or genetic counselor believes it is medically necessary. Many labs provide financial assistance for testing. It may also be possible to receive genetic counseling and undergo testing as part of a research study.

At-home genetic testing that includes BRCA1 and BRCA2 costs around $200 to $300. However, these tests typically only detect three BRCA mutations out of the more than 1000 which have been identified. If you have a positive result with an at-home test, you will need to confirm the result with a clinical laboratory.

Questions For Your Doctor About Test Results

Genetic Testing for Breast Cancer – Mayo Clinic

It may be helpful to ask your doctor or genetic counselor these questions:

  • What do my test results say about my cancer risk?
  • Do you recommend taking preventive measures to reduce my cancer risk? What are the risks and benefits of those procedures?
  • Do my family members also need to be tested?
  • How will I know if a variant of uncertain significance is reclassified as harmful or not harmful?
  • How do these test results change my medical care moving forward?

Also Check: Can Exercise Prevent Breast Cancer

Other Factors To Consider

Genetic testing has limitations and emotional implications. These may include:

Depression, anxiety, or guilt. A positive test result means a gene mutation exists. This result may bring difficult emotions. Some people may think of themselves as sick, even if they never develop cancer. Negative test results may also cause difficult emotions. For example, some people may experience guilt if they do not have a gene mutation that other family members have.

Family tension. People are generally encouraged to tell family members about test results because they can be important for the health of family members. But this information could also complicate family dynamics. Learn more about sharing genetic test results with your family.

A false sense of security. A negative result means a specific genetic mutation is not present. But people with negative results may still develop cancer. A negative result only means the persons risk is average. Each persons risk for cancer is also affected by other factors. For example, lifestyle, environmental exposure, and medical history.

High cost. Genetic testing can be expensive. It is particularly expensive if health insurance does not pay for it.

What Is Genetic Testing For Breast Cancer

Breast cancer is the most common type of cancer worldwide. About 1 in 8 U.S. women will develop it during their lifetime. By the end of 2021, there will be more than 3.8 million women in the U.S. with breast cancer. Genetic testing for breast cancer and counseling are viable options for those wanting to know if they have a higher risk.

Most direct-to-consumer tests search for BRCA1 and BRCA2 gene mutations, which are responsible for only seven percent of breast cancers. Moreover, the genetic test results are not always clear. A negative test result certainly provides relief but does not mean that risks are within the average of the rest of the population.

Breast cancer usually starts with a tumor that can be seen through an X-ray or as a lump. There are several types known. The most common ones include invasive lobular carcinoma and invasive ductal carcinoma. A less common type, angiosarcoma, accounts for only 1 to 2 percent of all sarcomas.

Symptoms vary, and some people do not have any signs or symptoms at all. Wide-spread campaigns promote self-examination in women for early detection. Some warning signs include:

  • Lump in the breast or underarm
  • Change in the size or shape of the breast
  • Pain in the breast or nipple area
  • Swelling or thickening of part of the breast

This is why it is important to get genetic counseling and testing for breast cancer with a professional.

Recommended Reading: What Is The Probability Of Getting Breast Cancer

Is Genetic Testing For Breast Cancer Worth It

With some health care providers charging $2,000+ for genetic testing for breast cancer, it can make many people wonder if its worth moving forward with it. The answer is it depends.

Those who are at an increased risk of receiving a cancer diagnosis would benefit from the genetic information provided by the testing. Hereditary breast cancer is life-threatening and knowing more about the genetics involved can save a life.

Those who do not have a family history and are not of Ashkenazi Jewish descent are at a lower risk of developing hereditary cancer. While the lifetime risk may be lower, many people still do undergo gene testing just for peace of mind. Most of the time, its the fear of having to pay for cancer treatment or they know someone who died from it.

Is it worth it to you? Youll have to ask yourself what benefits YOU will receive from the information. If it will improve your mental health because then you will know for sure whether youre at risk for hereditary cancer, then its worth it.

Why Genetic Testing For Breast Cancer

How Do Single

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.

Don’t Miss: What To Eat After Breast Cancer Surgery

Genetic Counseling For Breast Cancer


Focus on Breast Health is a series of tips to inform and empower you to be proactive about all aspects of breast care.

A genetic counselor is a specially trained professional that will meet with you to review your personal and family health history. Your genetic counselor will also discuss and recommend certain genetic testing and explain what the results mean for you and your family.

Who Is Eligible For The Oncotype Dx Breast Recurrence Score Test

You may be a candidate for the Oncotype DX Breast Recurrence Score Test if:

  • youve recently been diagnosed with stage I, stage II, or stage IIIa invasive breast cancer
  • the cancer is estrogen-receptor-positive
  • the cancer is HER2-negative
  • the cancer is lymph node-positive or lymph node-negative
  • you and your doctor are making decisions about chemotherapy

Most early-stage, estrogen-receptor-positive, HER2-negative breast cancers are treated with hormonal therapies, such as an aromatase inhibitor or tamoxifen, after surgery to reduce the risk that the cancer will come back in the future. Whether or not chemotherapy is also necessary has been an area of uncertainty for patients and their doctors.

If youve been diagnosed with early-stage, estrogen-receptor-positive, HER2-negative breast cancer, the Oncotype DX Breast Recurrence Score Test can help you and your doctor make a more informed decision about whether or not you will benefit from chemotherapy.

Recommended Reading: Can Fenugreek Cause Breast Cancer

Brca1/2 Testing Versus Panel Testing Secondary Findings

As mentioned above, recent health economic studies of genetic testing for BC suggest a higher cost-effectiveness to screen for pathogenic variants in a seven gene panel compared to the usual BRCA1/2 testing . However, regardless of the extent to which the screening of the multiple gene panel is cost-effective, there may be ethical reasons not to screen with the panel. In the following we shall discuss two such potential reasons: to screen with the multiple gene panel increases the number of secondary findings , and to screen with the panel increases the number of variants of uncertain significance .

Who Should Be Tested For Brca

Genetic Testing For Breast Cancer

While BRCA1 and BRCA2 gene mutations may increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determining breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.

Odds can also vary depending on a persons ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.

Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:

There are also other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

Also Check: Can Estroven Cause Breast Cancer

How Does The Oncotype Dx Breast Dcis Score Test Work

The Oncotype DX Breast DCIS Score Test analyzes the activity of 12 genes that can influence how likely the DCIS is to come back, either as another DCIS or as invasive breast cancer.

The Oncotype DX Breast DCIS Score Test assigns a Recurrence Score a number between 0 and 100 to the DCIS. You and your doctor can use the following ranges to interpret your results for DCIS:

  • Recurrence Score lower than 39: The DCIS has a low risk of recurrence. The benefit of radiation therapy is likely to be small and will not outweigh the risks of side effects.
  • Recurrence Score between 39 and 54: The DCIS has an intermediate risk of recurrence. Its unclear whether the benefits of radiation therapy outweigh the risks of side effects.
  • Recurrence Score greater than 54: The DCIS has a high risk of recurrence, and the benefits of radiation therapy are likely to be greater than the risks of side effects.

You and your doctor will consider the Recurrence Score in combination with other factors, such as the size and grade of the DCIS and the number of hormone receptors the cancer cells have . Together, you can make a decision about whether or not you should have radiation therapy.

Genetic Counselling And Testing

Genetic counselling is recommended before genetic testing to properly assess an individuals true risk and after testing to discuss the significance of results and advise on strategies to manage them.

Before any testing can take place a genetic counsellor will help you map your family structure and history on both the maternal and paternal sides. This needs to span three generations and each cancer diagnosis in the family must be confirmed.

If your level of risk meets the criteria for testing, the counsellor will discuss the implications of testing with you so you can make an informed decision about whether or not to proceed. For example:

  • What are the implications of a positive result? A negative result?
  • What if the test doesn’t return a definite result?
  • What are the psychological risks and benefits of being tested?
  • What are the implications for insurance if a mutation is found?

Harmful gene mutations are relatively rare in the population and they are extremely difficult to detect and interpret, especially in an individual who doesnt have cancer.

Genetic testing is a complex process and geneticists could find a genetic mutation which has not previously been associated with cancer. This type of test result is reported as a genetic variant of uncertain significance because it isnt known whether this particular gene mutation affects a persons risk of developing cancer.

Read Also: How Young Can You Get Breast Cancer


Popular Articles