BRCA Gene Mutation Risks: Who Are at Risk and Who Should Get Tested?

November 25, 2021 8:40 PM

Those women with mutations BRCA1 and BRCA2 are at a greater risk of breast cancer.

The BRCA gene test tends to use one’s DNA analysis to identify harmful changes (mutations) that are genes like BRCA1 and BRCA2.

By Dr Shilpy Dolas

Did you know? Cancer may usually not be inherited. Breast, ovarian, colorectal, and prostate cancer tend to run in the families and can also be influenced due to certain genes like BRCA1 and BRCA2. Yes, you have heard it right! In the below article, we tell you about these genes.

Those women with mutations BRCA1 and BRCA2 are at a greater risk of breast cancer. The BRCA gene test tends to use one’s DNA analysis to identify harmful changes (mutations) that are genes like BRCA1 and BRCA2. Those with inherited genes are at an increased risk of getting breast or ovarian cancer when compared to others not having these genes. The BRCA gene test is recommended to the ones who have a possibility of having an inherited mutation based on personal or family history of breast cancer or ovarian cancer. Are you aware? The positive result indicates that a gene mutation that increases your risk of cancer can be discussed and managed with the help of the doctor. Moreover, a negative result may indicate the absence of gene mutation doctors hasn’t found yet. Your doctor will decide when to opt for this test, and they also undergo genetic counselling. When you go for genetic counselling, you will be able to know what the results indicate about your health, you will be able to understand if the testing is appropriate for you and will be also told about a specific set of genetic tests based on the family history.

Know why you will be asked to go for gene testing: You will be asked to do gene testing if you have a history of breast cancer diagnosed before age 45, a personal history of triple-negative breast cancer, a history of ovarian cancer, male breast cancer, having one or more relatives with breast cancer, two or more relatives diagnosed with breast cancer, one or more relatives with ovarian cancer, or two or more relatives with prostate or pancreatic cancer, a personal history of prostate cancer or pancreatic cancer with two or more relatives with BRCA-linked cancers, a relative with a known BRCA1 or BRCA2 mutation. Thus, a genetic counsellor will guide you regarding the genetic testing options based on your personal and family history.

The results: This testing can be termed predictive genetic testing. Here, a positive result means you have a higher risk of developing cancer. A negative test will indicate that BRCA gene mutation was not detected. However, determining the chances of cancer is still challenging. Not everyone is asked to go for it. Furthermore, it is also a personal decision and should be taken only after meeting the genetic counsellor.

What can be done after testing?

Then, once you are positive, you will have to manage the risk of cancer properly with the help of a doctor. Then, you will be asked to opt for certain lifestyle changes like adopting a healthy diet, exercise, and weight loss as suggested by the doctor. You will also be asked to go for risk-reducing surgery that is removing the tissue (such as the breasts or ovaries) that could become cancerous via mastectomy that can further lower the risk of breast cancer.

(The author is consultant breast Oncosurgeon, Motherhood Hospital, Pune. Views expressed are personal and do not reflect the official position or policy of Financial Express Online. Reproducing this content without permission is prohibited.)

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