Test To See If Breast Cancer Is Genetic

What Can I Do To Reduce My Risk Of Developing Breast Cancer Or Ovarian Cancer If I Have A Brca Gene Mutation

Risk-reducing surgery

A prophylactic, bilateral mastectomy, which is the preventive surgical removal of both breasts, can lower the risk of breast cancer by more than 90%. Only about 3% of breast cancers associated with BRCA mutations are diagnosed before age 30, so most women with a BRCA mutation could consider surgery after 30. However, bilateral mastectomy is an invasive and irreversible procedure.

A prophylactic salpingo-oophorectomy, which is the preventive surgical removal of the ovaries and fallopian tubes, can lower the risk of ovarian cancer by approximately 90%. It may also help lower the risk of breast cancer by 50% for women who have not been through menopause. A special procedure to look for microscopic cancer in the ovaries and fallopian tubes is recommended after this surgery. Deciding whether to have preventive surgery to lower your risk of developing breast or ovarian cancer is a very personal decision. Your health care team and genetic counselor can help you understand the risks and benefits, based on your health, type of BRCA mutation, and family history of cancer.

Chemoprevention

Taking oral contraceptives, or birth control pills, for 5 years may lower the risk of ovarian cancer for women with BRCA1 or BRCA2 mutations by up to 50%. However, this must be balanced by a potential slight increase in the risk of breast cancer. Learn more about risk reduction options in this site’s Ovarian Cancer section.

Are Gep Tests Available For Other Cancer Types

GEP tests are not widely available and are still used mainly within research. They are still in the early stages of development for most types of cancer. It takes time for scientists to develop these tests, to make sure that they work and that they are accurate and cost effective.

The tests have to be different for each type of cancer. For example, the gene activity in the cells of a breast cancer is different to the cells of a bowel cancer. Even within one type of cancer it might be necessary to develop different tests for different stages of that cancer.

Researchers have been looking into GEP tests for different cancers including breast cancer, bowel cancer, food pipe cancer and stomach cancer.

Inherited Gene Mutations That Increase Breast Cancer Risk

Most women who get breast cancer dont have an inherited gene mutation related to breast cancer.

In the U.S., 5-10 percent of breast cancers are related to a known inherited gene mutation . About half of these breast cancers are related to a BRCA1 or BRCA2 inherited gene mutation .

An inherited mutation in any of these genes increases the risk of breast cancer:

Most of these gene mutations also increase the risk of other cancers.

BRCA1 and BRCA2 gene mutations are the most well-known of these 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.

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What Are The Study Benefits

The benefits include receiving a genetic test that most Canadians are not eligible to receive under their provincial programs. Furthermore, this genetic information may allow you to better manage your health and understand your risks for developing specific types of cancers. BRCA mutation carriers identified through the study will receive standard, one-on-one genetic counselling and be given information about their cancer risk and the most current management options, and they will have access to long-term genetic care locally. Being identified as a gene mutation carrier may mean access to intensified screenings, taking medications to reduce cancer or preventative surgery that was not previously available. The study may also benefit family members by helping to clarify the level of cancer risk in the family, as well as give relatives the information so they too can make informed decisions about their health. In addition, should you wish to have testing for additional genes related to hereditary cancers, this option is available through the Screen Project at no extra cost, after you receive your BRCA1 and BRCA2 genetic testing results. For more information regarding this additional testing, please see the study consent form.

When Is Genetic Testing Not Recommended

Theres only a very small chance your family carries an inherited gene mutation related to breast cancer if you or a family member is the only person in your family with breast cancer .

Although you always have the option of being tested, in most cases, genetic testing isnt recommended when theres a very low chance of finding a gene mutation. Its strongly recommended you speak with a genetic counselor before deciding whether to have genetic testing. If you dont meet criteria for testing though, insurance may not cover the cost .

Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer .

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Establishing Prediction Of Chemotherapy Benefit With Precision

Clinical evidence from the TAILORx and NSABP B-20 studies established that the Oncotype DX test can precisely identify two groups of patients: those who can be spared chemotherapy and those who will substantially benefit from it.3,5

Patients with Recurrence Score results 025 do not benefit from the addition of chemotherapy to endocrine therapy2,3,5

Genetic Testing To Help Evaluate Cancer Risk

Predictive genetic testing is a type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be suggested for:

• A person with a strong family history of certain types of cancer, to see if they carry a gene mutation that increases their risk. If they do have an inherited mutation, they might want to have screening tests to look for cancer early, or even take steps to try to lower their risk. An example is testing for changes in the BRCA1 and BRCA2 genes in people with several family members who have had breast cancer.
• A person already diagnosed with cancer, especially if there are other factors to suggest the cancer might have been caused by an inherited mutation . Genetic testing might show if the person has a higher risk of developing some other cancers. It can also help other family members decide if they want to be tested for the mutation.
• Family members of a person known to have an inherited gene mutation that increases their risk of cancer. Testing can help them know if they need screening tests to look for cancer early, or if they should take steps to try to lower their risk.

Most people do not need this type of genetic testing. Its usually done when family history suggests that a cancer may be inherited or if cancer is diagnosed at an uncommonly young age.

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What Is The Role Of The Brca Gene In Breast Cancer

BRCA1-Related Tumors-

• They usually overlap with basal-like breast cancers.

• They are estrogen and progesterone receptor-positive.

BRCA2-Related Tumors-

• The histologic characteristics of BRCA2-related tumors have been inconsistent but appear more heterogeneous and less characterized than BRCA1-related tumors.

• They show higher histologic grades with an excess of medullary histopathology.

• They are estrogen receptor-negative and progesterone receptor-negative.

• They are less likely to demonstrate human epidermal growth factor receptors.

Contralateral Breast Cancer –

1) Several studies have found that women treated conservatively had a higher incidence of contralateral breast cancer .

2) The risk factors for contralateral breast cancer are:

• Women were diagnosed with their first breast cancer at a young age.

• A family history of early-onset breast cancer.

• The damaged BRCA gene.

3) Most studies suggest an increased risk of contralateral breast cancer in people with a BRCA1 pathogenic variant compared to people with a BRCA2 pathogenic variant.

4) Prophylactic oophorectomy reduces the risk of contralateral breast cancer in women .5) There was no apparent link between radiation therapy and increased contralateral breast cancer incidence in people with BRCA1 or BRCA2 mutations.

Ipsilateral Cancer-

What Is Hereditary Breast And Ovarian Cancer

A diagnosis of Hereditary Breast and Ovarian Cancer Syndrome is considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. The chance that a family has HBOC increases in any of these situations:

• 1 or more women are diagnosed at age 45 or younger

• 1 or more women are diagnosed with breast cancer before age 50 with an additional family history of cancer, such as prostate cancer, melanoma, and pancreatic cancer

• There are breast and/or ovarian cancers in multiple generations on the same side of the family, such as having both a grandmother and an aunt on the fathers side both diagnosed with these cancers

• A woman is diagnosed with a second breast cancer in the same or the other breast or has both breast and ovarian cancers

• A male relative is diagnosed with breast cancer

• There is a history of breast cancer, ovarian cancer, prostate cancer, and/or pancreatic cancer on the same side of the family

• Having Ashkenazi Jewish ancestry

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Considering Genetic Counseling And Testing For Breast Cancer Risk

If you’re concerned about your risk because of a personal or family history of breast cancer, talk with your doctor. As a first step, your doctor might use one of several risk assessment tools that are now available. These mathematical models use your family history and other factors to help give you and your doctor a better idea about your risk of having an inherited BRCA gene mutation. But these assessment tools aren’t perfect, and each one might give different results, so doctors are still trying to figure out how best to use them.

Regardless of whether one of these tools is used, your doctor might suggest you could benefit from speaking with a genetic counselor or other health professional who is trained in genetic counseling. They can review your family history in detail to see how likely it is that you have a family cancer syndrome such as HBOC. The counselor can also describe genetic testing to you and explain what the tests might be able to tell you, which can help you decide if genetic testing is right for you.

Genetic testing is covered by many health insurance plans, but it might not be covered by some of them.

If you do decide to get tested, the genetic counselor can also help explain what the results mean, both for you and possibly other family members. To learn more about genetic testing in general, see Genetics and Cancer.

Taking A Genetic Test On Your Own: What You Need To Know

Have you heard about people taking a genetic test on their own and learning about genetic mutations that may raise their risk for breast cancer? This type of test, called a direct-to-consumer genetic test, can be taken at home. It can tell you about your ancestry and genetic traits, including limited information about your risk for diseases like breast cancer.

Its important to know that this type of test may not give you a full understanding of your breast cancer risk, especially if breast cancer runs in your family.

For most women, a direct-to-consumer genetic test may not find if you have a higher risk for breast cancer.

The direct-to-consumer genetic test approved by the Food and Drug Administration looks for 3out of more than 1,000BRCA gene mutations that can increase your risk for breast cancer.

Direct-to-consumer genetic tests do not take into account non-BRCA gene mutations or non-genetic factors that can increase breast cancer risk.

A direct-to-consumer genetic test may not give you a complete understanding of your breast cancer risk, especially if breast cancer runs in your family. If you think you may be at higher risk for breast cancer, it is best to work with a doctor or genetic counselor who can assess your risk, interpret your results, and build an action plan.

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What This Means For You

If you have had breast cancer, or know of personal and family risks for the condition, talk to your doctor about genetic testing. Regardless of whether you get an at-home or clinical genetic test, meeting with a genetic counselor or clinical cancer geneticist can help you to put the results into perspective so you can make the best preventive treatment plan. You can find a genetic counselor here.

Criteria For Brca Testing

The current USPSTF guidelines state that the target population for BRCA testing includes high risk individuals who have a personal or family history of breast or ovarian cancers at a young age , that suggests inherited cancer susceptibility, when an individual has access to a health professional who is trained to provide genetic counseling and interpret test results, and when test results will aid in decision making.32 Recommendations vary, but the following criteria are generally considered when evaluating patients for genetic testing: 1) breast, colorectal, or endometrial cancer diagnosed before age 50, 2) bilateral breast cancer, 3) two primary breast cancers or clustering of breast and ovarian cancer, 4) multiple cancers at a young age, 5) rare cancer presentation at any age, 6) two or more primary types of BRCA1- or BRCA2-related cancers in a single family member, or 7) family history of male breast cancer.

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When Is Genetic Testing Not Likely To Be Useful

Genetic testing is unlikely to find a gene mutation that impacts risk reduction, screening or treatment in :

• Women diagnosed with breast cancer after age 60 who dont have a close family member with breast, ovarian, pancreatic or prostate cancer
• Men diagnosed with early stage or slow-growing prostate cancer who dont have a close family member with breast, ovarian, pancreatic or prostate cancer

Testing Cancer Cells For Gene Changes

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

These types of tests look for acquired gene changes only in the cancer cells. 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 Biomarker Tests and Cancer Treatment.

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What Are The Disadvantages Of Genetic Testing For Cancer

Researchers studying the impact of genetic testing on families have found genetic testing can cause psychological distress and affect family relationships.

People with inherited cancerous genes may worry other people friends, employers, insurance companies may learn about their situation. People who may have inherited cancerous genes may worry about the possible costs of paying for genetic testing and follow-up tests.

Who Should Get Tested

Anyone who has a family history of breast cancer should consider getting tested for the presence of mutations in the BRCA genesespecially if there are multiple generations with a history of breast cancer. Your primary care physician or an oncologist can provide insight into whether or not you would benefit from undergoing the testing process. The best way to make sure youre being proactive about your health is to speak with medical professionals and evaluate all options available.

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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 enhanced screening, risk-reducing surgery , and chemoprevention.

Enhanced screening. Some women who test positive for harmful BRCA1 and BRCA2 variants may choose to start breast cancer screening at younger ages, have more frequent screening than is recommended for women with an average risk of breast cancer, or have screening with magnetic resonance imaging in addition to mammography.

No effective ovarian cancer screening methods are known. Some groups recommend transvaginal ultrasound, blood tests for the CA-125 antigen , and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 variants. However, none of these methods appear to detect ovarian tumors at an early enough stage to improve long-term survival .

The benefits of screening men who carry harmful variants in BRCA1 or BRCA2 for breast and other cancers are not known. Some expert groups recommend that such men undergo regular annual clinical breast exams starting at age 35 . The National Comprehensive Cancer Network guidelines recommend that men with harmful germline variants in BRCA1 or BRCA2 consider having a discussion with their doctor about prostate-specific antigen testing for prostate cancer screening starting at age 40 .

What Do The Results Of Genetic Testing Mean

Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, variant of uncertain significance, or benign variant.

Positive result. A positive test result means that the laboratory found a genetic variant that is associated with an inherited cancer susceptibility syndrome. A positive result may:

• For a person who has cancer, confirm that the cancer was likely due to an inherited genetic variant and help guide treatment choices
• Indicate an increased risk of developing certain cancer in the future and guide future management to lower that risk
• Provide important information that can help other family members make decisions about their own health care, such as whether to have genetic testing to see if they have also inherited the variant.

Also, people who have a positive test result that indicates that they have an increased risk of developing cancer in the future may be able to take steps to lower their risk of developing cancer or to find cancer earlier, including:

• Being checked at a younger age or more often for signs of cancer
• Reducing their cancer risk by taking medications or having surgery to remove at-risk tissue.
• Changing personal behaviors to reduce the risk of certain cancers
• Getting help to guide decisions about fertility and pregnancy

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