BRCA1 vs. BRCA2: Understanding the Difference and What It Means for You

You have probably heard about the BRCA1 vs. BRCA2 genes in conversations around breast cancer. But do you know what exactly they are, and how they impact your health? Both these genes are linked to hereditary breast and ovarian cancers, but they are different. ¹

Understanding the difference between BRCA1 and BRCA2 can help you assess your cancer risk, make informed health decisions, and take preventive steps if needed. In this blog, we will help you with exactly that. Keep reading to understand what these genes are and why knowing your BRCA1 and BRCA2 status could be one of the most important health decisions you ever make.

What Are BRCA1 & BRCA2?

BRCA1 (Breast Cancer gene 1) and BRCA2 (Breast Cancer gene 2) are tumour suppressor genes. That means they help fix DNA damage in cells and keep them from turning cancerous. Every human has these genes, one copy inherited from each parent.

When either gene has a mutation, its ability to repair DNA is impaired. This increases the chance that a person will develop certain cancers, especially breast, ovarian, prostate, and pancreatic cancers. These mutations are inherited, meaning they are passed down through families. That is why BRCA gene testing is often recommended for people with a strong family history of cancer. ²

Now that you know what BRCA1 and BRCA2 genes are, you might be wondering how they differ. While both are linked to BRCA gene mutations and cancer risk, their behaviour and impact on the body are not exactly the same. The next section will give you a closer look at their key differences.

BRCA1 vs. BRCA2: Key Differences

Both BRCA1 and BRCA2 are tumour suppressor genes that help repair DNA and prevent cancer. However, they differ in the following ways:

Gene Location

BRCA1 is found on chromosome 17.
BRCA2 is located on chromosome 13. ³

Role in DNA Repair

BRCA1 detects DNA damage and coordinates different repair pathways.
BRCA2 plays a more targeted role by guiding the RAD51 protein to fix damaged DNA accurately. ⁴

Breast Cancer Risk in Women

Women with a BRCA1 mutation have up to a 72% risk of developing breast cancer by the age of 80.
For BRCA2 mutations, the risk is up to 69%, which is slightly lower. ⁵

Ovarian Cancer Risk in Women

BRCA1 mutations increase ovarian cancer risk to about 44%.
BRCA2 mutations carry a lower risk, around 17%. 

Typical Age of Cancer Onset

BRCA1-related cancers usually develop earlier, between ages 41-50.
BRCA2-related cancers tend to appear later, between 51-60. ⁶

Breast Cancer Risk in Men

BRCA1 mutations raise male breast cancer risk to about 0.2%-1.2% by age 70.
BRCA2 mutations raise this risk to 1.8%-7.1%. ⁷

Understanding the differences in how BRCA1 vs. BRCA2 behave is important. But what does that mean for you? Should you consider BRCA gene testing? Learn more about it below.

Who Should Consider BRCA Testing?

You may want to consider BRCA gene testing if: 

• A close relative has tested positive for a BRCA1 or BRCA2 mutation.
• You have Ashkenazi Jewish ancestry, which is linked to a higher chance of BRCA gene mutations.
• Someone in your family or you had breast cancer before the age of 50.
• There is a personal or family history of ovarian cancer.
• A male relative had breast cancer.
• There is a pancreatic cancer or aggressive prostate cancer history in your family
• You have BRCA-related cancer and want to guide treatment.
• Plans to start a family make it important for you to understand inherited cancer risks.

If you are wondering what the testing process actually involves, the next section is for you. Keep reading to learn what you can expect.

What Happens During BRCA Testing?

BRCA testing is a simple process. It offers you a few options depending on what is most comfortable or accessible for you. The test may use a blood sample, saliva, or a cheek swab. Here is how each method works: ⁸

Blood Test

A healthcare professional draws a small amount of blood from a vein in your arm using a thin needle. The process takes just a few minutes and needs no special preparation. You may feel a brief sting during the test or notice minor bruising, but these go away quickly.

Saliva Test

You will either spit into a container or use a cotton pad to absorb saliva. For accurate results, your doctor may ask you to stop eating, drinking, or smoking for at least 30 minutes before the test.

Cheek Swab

A healthcare expert will use a soft brush or swab to gently scrape the inside of your cheek to take the sample. They may also ask you to rinse your mouth beforehand. This method is completely painless, and in many cases, you can do it yourself under guidance.

You may also find at-home BRCA test kits that usually use saliva samples. These can check for a few common BRCA mutations, particularly in certain populations. However, they do not test for all known variants. So, a negative result from a home kit does not necessarily rule out risk.

Once the test is done, the next step is understanding what your results mean. Whether you test positive, negative, or somewhere in between, your results can give you valuable insight into BRCA1 and BRCA2-related cancer symptoms and potential next steps.

Understanding Your BRCA Test Results

Usually, your healthcare provider or genetic counsellor will help interpret the results in the context of your personal and family history. That’s because the same result can mean different things depending on your background and existing health conditions. Here is a general overview of what common types of BRCA test results may mean: 

Negative Result

This means no harmful changes were found in your BRCA1 or BRCA2 genes. However, a negative result does not automatically mean your cancer risk is low, especially if you have already had cancer or a close family member has a known BRCA mutation.

Variant of Uncertain Significance (VUS)

This means that the result is uncertain. It usually happens when there is a change in your BRCA genes that the scientists are unsure about. They need more research to understand whether the variant is linked to cancer.

Positive Result

A positive result means you carry a BRCA1 or BRCA2 mutation known to increase the risk of certain cancers. While this does not mean you will develop cancer, it does indicate a significantly higher lifetime risk.

If you have tested positive for a BRCA1 or BRCA2 mutation, there are steps you can take to either reduce your risk or catch cancer early when it is most treatable. Learn more about it in the next section.

Managing BRCA Mutations: Prevention & Treatment Options

Women with BRCA mutations face a significantly increased risk of developing breast and ovarian cancer. Here are the most common prevention and early detection strategies they can follow: ⁹

• Go for regular clinical breast exams.
• Get a yearly breast screening using both MRI and mammograms to detect cancer at an early stage.
• Get screened for ovarian cancer using transvaginal ultrasound and a CA-125 blood test.
• Maintain a healthy weight and stay physically active to support overall cancer prevention.
• If you notice any changes in how your breasts look or feel, consult a doctor immediately.
• You may ask your doctor for medicines like tamoxifen and raloxifene to reduce cancer risk.
• If you have breast cancer in one breast and a BRCA mutation, you may talk to your doctor about removing both breasts to prevent future cancers. This surgical process is
• known as mastectomy and is the most effective way to prevent breast cancer.
• To reduce ovarian cancer risk, you may ask your doctor about salpingo-oophorectomy, a surgery to remove the ovaries and fallopian tubes.

Men with BRCA mutations are also at higher risk of certain cancers, especially male breast cancer and prostate cancer. As a prevention strategy, it is recommended they perform breast self-exams and go for yearly clinical exams starting at age 35. They may also opt for mammograms for better screening starting at age 50. 

Final Thoughts

Learning about BRCA1 vs. BRCA2 is not just for scientists or doctors. It is for anyone who wants to take control of their health. If you carry a BRCA mutation, it could mean a higher risk for certain cancers, but it also means you have the chance to act early. Whether it is through regular screenings, preventive care, or treatment tailored to your genetic profile, knowing your status empowers you to make informed choices.

So, if you have a personal or family history of cancer, talk to your doctor or a genetic counsellor about BRCA1 & BRCA2 Gene Analysis. This simple test could be the most powerful step you take for yours’ and your loved ones' health.

FAQs

What Is the Cost of BRCA1 and BRCA2 Tests in India?

The BRCA testing cost in India typically ranges from ₹14,000 to ₹28,000, depending on the diagnostic lab, location, and whether full gene sequencing is required. Some centres like LifeCell Diagnostics may offer subsidised rates, with prices starting as low as ₹14,000 for eligible individuals.