BRCA gene test explained: Who should get screened for breast cancer risk

For most people, BRCA is just a four-letter acronym. For some, it is a life-changing diagnosis. And lately, it has become something else entirely—a subject of heated public debate. I now have an increasing number of people asking me- what is the BRCA gene?

So here is a simple analogy. Think of the BRCA genes as the car's braking system. Every time you drive, unexpected hazards appear—a child runs across the road, another vehicle swerves, or the traffic light changes suddenly. Good brakes don't prevent hazards from appearing; they help you avoid a crash when they do. BRCA genes work in much the same way. 

Every day, our cells accumulate small amounts of DNA damage. Healthy BRCA genes help repair this damage before it becomes dangerous. When a BRCA gene is faulty, the body's repair system is less efficient. The road becomes riskier because the brakes are weaker—a collision is likely but not guaranteed. A harmful mutation in the BRCA genes significantly increases the lifetime risk of breast and ovarian cancers, while also raising the risk of prostate, pancreatic and certain other cancers. Importantly, carrying a mutation is not a cancer diagnosis. It is a marker of increased risk—not destiny. 

Yet that distinction is often lost.

The public conversation swings between two extremes. One side portrays BRCA testing as something every woman should undergo. The other fears it creates unnecessary anxiety, leading to drastic preventive surgeries in people who may never develop cancer. The truth, as is often the medicine case, lies somewhere in the middle.

A BRCA test is not a screening test for the general population. It is a targeted investigation for individuals with a strong family history, early-onset breast cancer, ovarian cancer, male breast cancer, pancreatic cancer, certain prostate cancers, or specific ethnic backgrounds with higher mutation rates. International guidelines continue to recommend genetic counselling before and after testing precisely because interpreting the results requires expertise. 

One of the biggest misconceptions is that a positive BRCA result means cancer is inevitable. It does not. Some carriers might never develop cancer. Conversely, most women who develop breast cancer do not carry a BRCA mutation. Lifestyle, environment, ageing, and many other genes all contribute to cancer risk.

Another source of controversy is what happens after a positive result. Celebrity disclosures have made preventive mastectomy and removal of the ovaries widely known. These surgeries can dramatically reduce cancer risk in carefully selected individuals, but they are never one-size-fits-all solutions. Enhanced surveillance, medications that reduce risk, reproductive planning and informed decision-making are equally important parts of modern care.

Perhaps no individual has shaped public awareness of BRCA more than Angelina Jolie. In 2013, after learning she carried a BRCA1 mutation and had a strong family history of breast and ovarian cancer, she chose to undergo a preventive double mastectomy. Two years later, she also underwent preventive removal of her ovaries and fallopian tubes. By sharing her deeply personal decisions, she transformed what had largely been a medical term into a household conversation. Millions of women sought information about hereditary cancer, and referrals for genetic counselling and BRCA testing rose dramatically worldwide—a phenomenon now known as the "Angelina Jolie effect."

But unfortunately, the publicity also created misconceptions. Many people came to believe that every woman with a BRCA mutation should undergo preventive surgery, or that every woman with breast cancer should have BRCA testing. Neither is true. Jolie herself repeatedly emphasised that surgery was her choice, based on her mutation, her family history and careful discussions with her doctors—not a recommendation for every woman. Her story should inspire informed decision-making, not imitation.

In India, the discussion has additional layers. Several studies suggest that BRCA mutations may be more common in certain groups of Indian breast cancer patients than previously believed, particularly among women with triple-negative breast cancer. This has strengthened the argument for wider access to high-quality genetic testing and counselling. 

Perhaps the greatest danger is not testing—it is misunderstanding. Even variants of uncertain significance—genetic changes whose meaning remains unknown—can generate confusion if communicated poorly.

As surgical oncologists, we increasingly find ourselves not merely treating cancer but helping families navigate probabilities, emotions and difficult choices. A BRCA report is not a verdict; it is the beginning of a conversation. It should lead to personalised risk assessment, evidence-based surveillance and, when appropriate, preventive strategies—not fear.

The current fracas over BRCA testing is therefore healthy if it encourages informed debate. It becomes harmful only when it replaces science with sensationalism.

Genes may load the gun, but they do not always pull the trigger. Our responsibility is not simply to identify risk, but to ensure that knowledge empowers rather than frightens. In the era of precision medicine, the real challenge is not reading the genome—it is reading it wisely.

The opinions expressed in this article are those of the author and do not purport to reflect the opinions or views of THE WEEK.