BRCA Gene Testing: What to Expect and How to Prepare

Are you aware of the BRCA gene and its impact on health? BRCA gene testing provides crucial information about the risk of breast and ovarian cancers by examining mutations in BRCA1 and BRCA2 genes. This test helps you make informed decisions, guiding proactive measures for your well-being. Especially beneficial for individuals with a family history of cancer, it outlines preventive care strategies and personalized health choices.

In this blog, we will learn about BRCA genes, their cancer risks, testing procedures, result interpretations, impacts, risk reduction, and treatment options.

Understanding BRCA1 and BRCA2 Genes

BRCA1 and BRCA2 are genes that produce proteins that are pivotal in repairing damaged DNA. There are two copies of each of these genes – one copy is inherited from each parent. These genes are often referred to as tumor suppressor genes. When there are mutations or pathogenic variants of these genes, there are chances of developing cancer.

Inheriting harmful variants in any one of these genes increases the risks of cancers – particularly ovarian and breast cancer.

How Do BRCA Gene Mutations Increase the Risk of Cancer?

Ovarian and breast cancer are the two most common types of cancer that affect women. Inheriting a harmful variant in BRCA1 and BRCA2 increases the risk of developing these cancers manifold times. However, the mutation is a decisive factor in ascertaining the risk percentage:

  • Ovarian Cancer

    Approximately 1.2% of women develop ovarian cancer in the general population at some time during their life. In 2023, approximately 19,710 women have been diagnosed with ovarian cancer in the USA. It is a striking fact that 39-44% of women inheriting a BRCA1 variant and 11-17% of women inheriting a BRCA2 variant will develop ovarian cancer by almost 70-80 years of age.

  • Breast Cancer

    It is estimated that approximately 13% of women have breast cancer in the general population. Currently, there are 4 million women in the USA with a history of breast cancer. 55-72% of women inheriting a harmful BRCA1 variant and 45-69% of women inheriting a BRCA2 variant have a chance of developing breast cancer by 70-80 years of age.

Who Should Consider BRCA Testing?

BRCA mutation testing is something to think about if you have certain factors that might raise your chances of having inherited gene mutations. These mutations can significantly increase the risk of breast or ovarian cancer. Here's who might want to consider BRCA testing:

  • Family History: If someone in your family has had breast or ovarian cancer, especially at a younger age, it's worth considering.
  • Multiple Family Members with Cancer: If more than one family member on the same side has had breast, ovarian, or related cancers, it might be something to look into.
  • Personal Cancer History: If you've had breast cancer at a young age or both breast and ovarian cancers, it's worth considering.
  • Male Relatives with Breast Cancer: If men in your family have had breast cancer, it could indicate a potential genetic risk that's worth exploring.

The Benefits of BRCA Gene Mutations

Knowing how BRCA gene mutations can benefit you is important for managing your health effectively:

  • Early Detection: Knowing BRCA mutations early helps catch potential cancer risks sooner, allowing for better treatment options and outcomes.
  • Tailored Prevention: Understanding these mutations lets you personalize prevention strategies, like more frequent screenings or preventive surgeries, reducing the likelihood of cancer.
  • Informed Choices: With this knowledge, you can make informed decisions about your health, considering various options to manage and reduce your cancer risk.
  • Family Awareness: Being aware of BRCA mutations prompts family members to get tested, enabling them to take necessary precautions if at risk.
  • Targeted Treatment: If diagnosed with cancer, knowing about BRCA mutations helps doctors choose more effective and targeted treatment plans for better results.
  • Future Planning: It provides insights for family planning decisions, like considering fertility options or genetic counseling for future generations.

How Is BRCA Mutation Testing Done?

BRCA screening is a simple process where either a small blood sample or a saliva sample is taken. This is usually done at a hospital or a clinic. The sample is then sent to a lab where specialists examine it to check for any changes or mutations in the BRCA genes.

These changes might suggest a higher risk of certain cancers like breast or ovarian cancer. After a few weeks, your doctor will discuss the results with you and help you understand what they mean for your health.

Types of BRCA Testing Results

Exploring the different outcomes of BRCA screening can shed light on your health journey. Here's a breakdown of what each result means for you:

  • Positive Results: This indicates the presence of a BRCA gene mutation, suggesting an increased risk of certain cancers like breast or ovarian.
  • Negative Results: These suggest no identified mutations in the BRCA genes, reducing the likelihood of an inherited risk for those specific cancers.
  • Variants of Uncertain Significance (VUS) Results: This outcome implies genetic changes that aren't definitively linked to cancer risks, necessitating further evaluation and monitoring by healthcare professionals.

The Impact of BRCA Mutations

If you test positive for the BRCA mutation testing, you are at a high risk of developing breast cancer or ovarian cancer. In such a situation, you have to be in constant touch with doctors and remain under their surveillance to safeguard your health. You have to be extra careful as well.

Effective Tips to Reduce the Risk of BRCA Mutation

People who have BRCA mutations and suffer from ovarian, breast, pancreatic, and prostate cancer must know the ways of managing these ailments. Here are some tips to reduce the risk of BRCA mutation:

  • Better screening for detecting ovarian and breast cancer
  • Chemoprevention, which is using medication to reduce the risk of cancer
  • Risk-reducing surgery, which involves removing the risky tissue as soon as possible

Medical Treatment Options for BRCA Gene

When it comes to managing the BRCA gene mutation, here are the available treatment options:

  • Surgery: Removing breasts or ovaries can lower your risk of developing certain cancers associated with the BRCA gene mutation.
  • Chemotherapy: This treatment involves medications that can target and destroy cancer cells, often used to manage BRCA-related cancers.
  • PARP Inhibitors: These drugs are designed to prevent cancer cells with BRCA mutations from repairing DNA, potentially aiding treatment or prevention strategies.
  • Platinum Agents: Certain chemotherapy drugs called platinum agents effectively address BRCA-related cancers by targeting specific DNA repair deficiencies.

Get the Best Personalized BRCA Gene Mutation Care at North Atlanta Women's Care

At North Atlanta Women's Care, we're committed to providing exceptional women's care. Our expert team prioritizes your well-being, employing advanced technology and delivering compassionate service.

If you seek BRCA gene mutation treatment or have any women's health concerns in Suwanee/Johns Creek, GA, or the North Atlanta area, we're here to help. Contact us today to schedule an appointment and discover how North Atlanta Women's Care can provide personalized care plans, genetic counseling, and supportive services tailored to manage BRCA gene mutations. Your health and comfort remain our top priorities.


Content Source: NCI, Cancer.Net, ACS


North Atlanta Women's Care

North Atlanta Women’s Care specializes in complete women's health care and is the preferred source of comprehensive obstetrics and gynecology services for many women in Johns Creek, Georgia, and the greater Atlanta area.

Gynecology Services

Be the first to post a comment

Leave a Reply

Your email address will not be published. Required fields are marked *