Unlocking The Mystery Of BRCA Gene Testing: Empower Your Health Journey - Dr Mohit Agarwal

Individuals inherit genes from each of the parents. BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) produce proteins to help the human body repair damaged DNA. Healthy BRCA1 and BRCA2 are responsible for suppressing the growth of tumors.

However, individuals who inherit harmful (or pathogenic) variants (or mutations) of any of the genes have an increased risk of several cancers, especially breast and ovarian cancer and tend to develop cancer at younger ages.

Although only 5 to 10 percent of breast cancer cases are inherited due to BRCA, recent estimates suggest that about 55 percent of BRCA1 mutation carriers and about 45 percent of BRCA2 mutation carriers will develop breast cancer by seventy years of age.

What is BRCA Gene Testing?

Multiple studies show how BRCA plays a role in hereditary breast cancer. Healthcare providers suggest testing this gene to rule out the likelihood of inheriting the harmful BRCA1 or BRCA2 variant.

Why is BRCA Gene Testing necessary?

BRCA gene testing is essential for individuals at risk of inheriting a harmful gene from either of the parents. A change or mutation in the gene during testing can indicate an increased risk of cancer.

Who should get BRCA Gene Testing?

Individuals likely to have an inherited mutation based on a personal or family history of breast cancer should get tested. Also, individuals with a family member who tested positive for BRCA mutation should consider BRCA testing.

When is BRCA Gene Testing Conducted?

If and when a family member is diagnosed with breast cancer, your healthcare provider may recommend you undergo the BRCA gene test.

How is BRCA Gene Testing done?

Individuals work with a doctor for genetic counseling, after which the counselor will determine if genetic testing is required. If testing is recommended, the BRCA gene test is done via blood (commonly) or saliva test.

Where is BRCA Gene Testing done?

Only labs specializing in genetic testing will test the blood or saliva for the BRCA1 and BRCA2 mutations. Individuals need to visit the lab to provide the sample for testing and will receive the test results in 4-5 weeks.

BRCA gene testing looks for abnormal changes in the BRCA1 and BRCA2 genes. A negative result means low to no chances of hereditary breast cancer. However, the doctor may continue to keep a watchful eye if there is a family history of breast cancer.

A follow-up genetic testing can also be done to rule out false negatives. A positive test result means a likely pathogenic or pathogenic variant, putting the individual at a higher-than-average risk of developing breast cancer.

While the risk is increased when having a BRCA mutation, it does not automatically mean a cancer diagnosis. However, a positive result of BRCA gene mutation will be a powerful tool in taking steps to catch the cancer early.