What are BRCA 1 and BRCA 2?

BRCA 1 and 2 stand for Breast CAncer genes 1 and 2 and are two well-known genes that contribute to Breast and Ovarian Cancers, among others. They belong to a group of genes known as tumor suppressors because they produce proteins that can repair damaged DNA.

Everyone has two copies of BRCA genes- one inherited from the mother and the other from the father. Even if a person inherits a mutated copy of BRCA1 or BRCA 2 from one parent, they still possess a normal copy from the other that functions well enough to support repair mechanisms within cells. However, if mutations develop in the normal copy of these genes, it can cause cancer.

Most of these mutations and the cancers they cause- breast cancer, ovarian cancer, etc. – are sporadic; they occur due to no known cause. However, about 5-10% of breast cancers and 10-15% of ovarian cancers run in families: they are hereditary.

What is a BRCA test and how does it help me?

A BRCA test is a genetic test based on Next Generation Sequencing technology that can identify mutations in BRCA 1 and BRCA 2 genes (For more on NGS testing in breast cancer diagnosis check out our blog New Approach in Prediction & Screening of Breast Cancer: NGS) ,using DNA from a blood sample, saliva sample, or a cheek swab.

Taking up this test gives you information about your BRCA gene status, helping you better understand your risk and your family’s risk for several cancers: Female Breast and Ovarian Cancer, Male Breast Cancer, Prostate Cancer, Pancreatic Cancer, Stomach, Esophageal, and Bile duct cancers, Uterine, Peritoneal and Fallopian tube cancers, and Melanoma.

You may be a candidate for BRCA testing if you have :

• A personal history of breast cancer or ovarian cancers diagnosed below the age of 50.
• A personal or family history of multiple cancer diagnoses- breast, ovarian, Fallopian tube, peritoneal, prostate, or pancreatic cancers.
• A male family member having breast cancer.(Does this criterion surprise you? Yes, males can get breast cancer too. To know more check out our blog on Breast Cancer can strike men too)
• A relative with a known deleterious mutation in BRCA1 or BRCA2 genes.
• Ashkenazi Jewish ancestry.
• A family history of an inherited cancer predisposition disorder, such as Cowden syndrome, Fanconi anemia, Li-Fraumeni syndrome, or Peutz-Jeghers syndrome.

DO YOU KNOW why Ashkenazi Jews have a higher risk of developing breast cancer?

The reason is the ‘Founder Effect’. Today’s Jews all descended from a core ‘Founder’ population of about 350 people that possessed these gene mutations, 600 to 800 years ago. The subsequent generations then passed on the same genes (inter-marriages are common in Jews), putting them at higher risk for certain genetic disorders. Some of these mutations are the harmful variants of BRCA 1/2, but there are others too- altogether, Ashkenazi Jews are at an increased risk of 17 other diseases besides breast cancer.

I belong to one of these risk groups. What do I do?

Talk to your health care provider and consider asking them the following questions:

• Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?
• What are my risks of developing breast, and ovarian cancer and other cancers?
• What can I do to reduce my risk of cancer?
• Should I meet with a genetic counselor?
• Should I consider genetic testing?
• What are my options for cancer screening?

It is also recommended to get in touch with a genetic counselor.

A genetic counselor will explain the pros and cons of learning more about your cancer risk, analyze your family history of cancer, and recommend an appropriate testing panel.

What is the procedure of a BRCA test? Do I need to prepare for the test?

The procedure of BRCA testing and test preparations depends on the sample type and where you decide to get your test done.

For a blood test: You do not require any special preparations. A healthcare professional will use a small needle to draw a blood sample from a vein in your arm. You may feel a little sting when the needle goes in or out. This procedure usually takes less than five minutes.

For a saliva test: You may be advised to stop eating, drinking, or smoking half an hour before the test. You will be asked to spit into a container or use a cotton pad to soak up some saliva.

For a cheek swab: You will be told to rinse your mouth before the test. A healthcare professional will wipe the inside of your cheek with a small tool to remove some cells.

Your healthcare provider will tell you when to expect results after providing the sample. The turnaround time varies from lab to lab. Once you get your results, schedule a follow-up appointment with your genetic counselor to understand your results and options.

Your genetic counselor will then interpret your BRCA test results, and explain the significance of the exact variant you have and what your results mean for you and your family members’ risk.

What are the possible results of a BRCA test?

Positive result: A positive test result indicates that a person has inherited a known harmful variant of BRCA1 or BRCA2 and has an increased risk of developing certain cancers. However, a positive test doesn’t mean the person will definitely develop cancer. Some people who inherit a harmful BRCA1 or BRCA2 variant never develop cancer even though they are at high risk of developing it. A positive test result may also have important implications for the family, including future generations.

Negative result: A negative test result is interpreted based on personal and family medical history. However, factors such as radiation exposure at an early age are also considered while assessing cancer risk.

Variant of Uncertain Significance (VUS) result: Some people may possess a mutation in BRCA1 or BRCA2 that is uncommon and not previously associated with cancer. This is “a variant of uncertain significance,” or VUS because its implications aren’t known for sure.

In addition to interpreting your results, your genetic counselor will take you through your options and help with the medical and emotional impact that the results may have caused on you and your family.

If you have a positive result, your doctor will decide the best course of treatment based on your Breast Cancer type, stage, testing results and other factors.( For more on Breast Cancer treatment, check out our blogs Effectiveness of Immunotherapy in Managing Breast Cancer, and Treating triple-negative breast cancer (TNBC) in the era of precision oncology)

Where can I get BRCA gene testing in India?

You can get your BRCA testing done at 4baseCare, a leading precision oncology firm that offers the most advanced genomic solutions available in India.

4baseCare’s genetic testing portfolio represents a dual focus: Accessibility and Affordability. It is curated such that every patient gets access to the most advanced genomic solutions, true to our purpose of providing cancer patients with the best chance at fighting cancer.

Cost of BRCA testing in India

The cost of your test will depend upon where you choose to get tested and also if your panel analyses other biomarkers besides BRCA 1 and BRCA 2. In general, the average cost of BRCA testing in India ranges from ₹5,000 to ₹20,000.

How do I book my BRCA test in India?

Visit our website www.4basecare.com to book any DNA test. Alternatively, you can also write to us at info@4basecare.com and one of our qualified professionals will get back to you at the earliest.

Rest assured that our team of experts will support you and clarify all your queries related to genetic testing.

References

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