Learn What BRCA Testing Is and Who Should Get BRCA Testing

If you’ve heard people talk about “breast cancer genes,” they probably meant BRCA, but what they said is only partly true. Everyone has BRCA (breast cancer) genes. And if they work properly, they protect you.

“We all have two copies of the genes BRCA1 and 2 and we want them to function properly,” said Chrissy Spears, MS, a certified genetic counselor at The Ohio State University Comprehensive Cancer Center and a member of HealthyWomen’s Women’s Health Advisory Council. It is not the genes themselves, but certain mutations (changes) of BRCA1, BRCA2 and Other genes may increase a person’s risk of developing breast and other types of cancer.

the genes BRCA1 and BRCA2 Normal ones produce proteins that help repair defective DNA. They are sometimes called “tumor suppressor genes” because they prevent cancer from occurring when they work properly. When the mutations of BRCA1 or of BRCA2 They prevent the protein BRCA repair DNA, cells are more likely to divide and grow rapidly, which can cause cancer.

Therefore, people with harmful mutations of BRCA1 oh BRCA2 they have one Increased risk of developing certain types of cancerincluding breast, ovarian and prostate.

Read:How do genes affect your health? >>

According to him national cancer institute:

  • Up to 72% of women with a harmful variant of BRCA1 and up to 69% of women with a harmful variant of BRCA2 will develop breast cancer until age 70 to 80, compared to 13% of women overall.
  • Up to 44% of women with a harmful variant of BRCA1 and up to 17% of women with a harmful variant of BRCA2 will develop ovarian cancer by the age of 70 to 80, compared with 1.2% of women overall.

The good news? There are tests that can tell if you have a mutation. BRCA. Understand the tests BRCA It may be helpful for you to decide with your health care provider (HCP) whether these tests are appropriate for you. A test BRCA Timely or immediately after a diagnosis could be a life-changing decision.

What are the tests? BRCA?

Genetic testing BRCA They look for mutations in your genes BRCA1 and BRCA2 that significantly increase a person’s risk of:

  • Breast cancer (in women and men)
  • ovarian cancer
  • Pancreatic cancer
  • Melanoma
  • Prostate cancer

Genetic testing also attempts to identify mutations in genes other than BRCA1 and BRCA2And there is more than 1000 known BRCA mutations. Blood or saliva tests can be done with no difference in the accuracy of the results. Talk to your doctor or genetic counselor to request an FDA-approved test. [Administración de medicamentos y alimentos]. Once a sample has been collected, you can expect results in about two weeks.

Who should get tested? BRCA?

BRCA testing is recommended for people with certain risk factors. These include:

  • Personal history of breast cancer (especially if you were diagnosed before age 50)
  • Personal history of breast and ovarian cancer
  • Personal or family history of multiple cancer diagnoses
  • Personal or family history of high-risk ovarian, pancreatic, or prostate cancer
  • At least one family member who has been diagnosed with breast cancer, especially if they were diagnosed before age 50.
  • Breast cancer in a male relative
  • One or more family members who have already been diagnosed with BRCA mutations
  • Ashkenazi Jewish descent, since 1 in 40 Ashkenazi Jewish women have a mutation BRCA
  • Other specific ancestries

If you have one or more of these risk factors, consider talking to your healthcare provider (HCP) about testing. BRCA. He or she may refer you to a genetic counselor, someone specially trained to help people decide if genetic testing is right for them.

Some mutations BRCA hereditary children. This means that they can be passed from parents to children. People will have a higher risk of certain types of cancer if they inherit a BRCA mutation. If you have a family history of certain types of cancer, such as breast, ovarian, and prostate cancer, genetic testing can be helpful in understanding your risk of developing certain types of cancer and will help you and your provider. healthcare providers make informed medical decisions.

“We believe that ‘knowledge is power,’” Spears said. “If we know there is a mutation, there are measures we can take about it.”

Read: How do genes affect your health? >>

Spears suggests that women also talk to men they know about BRCA testing because they, too, can have mutations. BRCA

.

Should you get tested BRCA After a breast cancer diagnosis?

Although the decision to undergo testing BRCA Following a diagnosis of breast cancer, genetic testing should be considered on an individual basis by a woman and her care team. Can be useful for women with breast cancer who:

  • They were diagnosed with breast cancer at a young age
  • They have triple negative breast cancer
  • Received a second breast cancer diagnosis (not a recurrence of the first cancer)
  • They have Ashkenazi Jewish ancestry
  • They have a family history of breast cancer (especially at an early age or in men), ovarian, pancreatic or prostate cancer

Recently, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology [Sociedad de oncología quirúrgica] (SSO) Published recommendations Updated genetic mutation testing for breast cancer patients. Among other criteria, guidelines recommend testing for mutations of BRCA1 and BRCA2 for patients newly diagnosed with breast cancer who are 65 years of age or younger and certain patients over 65 years of age.

Does it affect the status of BRCA treatment decisions?

Since mutations BRCA can affect the way breast cancer is treated, finding them early could be helpful in your treatment decisions. Genetic testing can give your healthcare provider insights into which targeted therapies might work best. (The targeted pharmacotherapy is a cancer treatment using drugs designed to “kill” cancer cells without affecting normal, healthy cells.)

Genetic testing results may also motivate you to take other preventive measures, such as more frequent testing, if you find that you are at increased risk for certain types of cancer.

Do insurance companies cover the tests? BRCA?

Many health insurance plans will cover the cost of genetic testing if it is recommended by a doctor, according to the American Society of Clinical OncologyBut coverage is ultimately decided by your insurance company, so it’s a good idea to check whether BRCA testing is covered before you proceed.

Some organizations provide information and resources for those who cannot afford preventive care. For example, FORCE, Facing Hereditary Cancer Empowered, is an awareness organization that provides information about genetic testing and directs people to additional resources related to insurance coverage for genetic testing.

Are home genetic testing kits effective?

Although there are home genetic testing kits, talk to your healthcare provider about testing BRCAHome tests are not comprehensive (i.e. they do not detect all mutations) BRCA) and its results could be confusing if an expert does not explain them to you or help you determine what the next steps are.

visit beBRCAware.com to learn how genetic testing can provide important information about cancer risk and how it can be helpful in making treatment decisions after a diagnosis.

This educational resource was prepared with the support of AstraZeneca and beBRCAware.com.

Resources

beBRCAware

Susan G. Komen Family Medical History Tool

UCSF BRCA Research and Study Center

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