Should I Be Tested for BRCA Mutations?

Cancer is always a tough topic, it can seem scary and daunting, especially if you have a family history. But the truth is that cancer is very treatable when diagnosed early, and if you understand your family history, you have a good chance of getting ahead of any unforeseen issues. 

We also cannot stress the importance of early detection enough. After emerging slowly from the COVID-19 pandemic and returning to normal life, albeit a new normal, we feel safer leaving our homes, which means more and more people are getting routine screening tests. One of the tests on the list is the BRCA mutation test. But how do you know if you need to take this test or not? 

Here we unpack what it is, and why it’s important.

What is the BRCA gene?

BRCA1 and BRCA2 are two genes that are very important in your body’s defense against cancer. Both are tumor suppressor genes, and when they are functioning normally, they help cells in the breasts, ovaries, and other surrounding tissue areas from growing and dividing too quickly.

Sometimes mutations or changes occur in the BRCA genes that can prevent them from performing properly. This will lead to an increase in the risk of breast and ovarian cancer.

See also: Cancer Risk Factors: What you Can & Can’t Control

Gene mutations

All women have BRCA1 and BRCA2 genes, but only about 1 in 500 women in the United States has a mutation of either BRCA1 or BRCA2. It is hereditary, and if your mother or your father has a mutation in either of the BRCA genes, then you have a 50% chance of having the same gene mutation.

It’s important to remember that not all women with mutations of the gene will get cancer, but it does increase your risk of certain cancers. It’s important to understand your family history when it comes to these mutations. Being aware of your potential risk will hopefully help you to catch it early.

Should I be tested for BRCA mutations?

If you know you have a history of BRCA gene mutations in your family, then it is always a good idea to test yourself. Catching these mutations early will give you the best chance of picking a treatment that is right for you, and increases the likelihood of survival. There are also preventative measures and treatments available if you test positive for the mutated gene.

When should I get a BRCA test?

There are a few factors to consider when thinking about getting tested for BRCA mutations. The below factors will help you determine if you are eligible:

  •     Your age
  •     Whether you have a history of breast, ovarian, or prostate cancer
  •     If a blood relative has tested positive for BRCA mutations
  •     If you have a family history of breast, ovarian, or prostate cancer
  •     The nature of your family history (number of relatives with cancer, and the age of cancer onset)
  •     If you are of Ashkenazi origin

If you would like to determine whether or not you are eligible, you should talk to your GP as soon as possible about your family history. GP’s are our first port of call when it comes to questions about getting tested and they can advise you on the appropriate steps.

How often should I test?

There is continuous research being done in this area and so it is recommended to test fairly regularly. Especially if you have a family history that concerns you. As a guide, if your most recent test results are more than five years old then your doctor may recommend having the tests done again.

It is always important to keep your GP updated on your family history. As your doctor gets each piece of data, they will be able to evaluate the risk to you and your family and will be able to help set a testing schedule.

Genetics and the role they play

As mentioned before, if you have a parent who has BRCA gene mutations, then you are at a far higher risk of developing cancers. Roughly 3% of breast cancers and 10% of ovarian cancers result from inherited mutations of the BRCA1 and BRCA2 genes.

Everyone has two copies of these genes, one set is inherited from your mother and the other, from your father. You and your family are likely to have BRCA mutations if you have a strong history of ovarian or breast cancers. Family members who inherit these mutations will generally share the same mutation.

Early diagnosis and treatment

The BRCA genetic test is done to look for changes (mutations) in the BRCA genes. It uses DNA to identify these harmful changes. It’s important to remember that not everyone with BRCA gene mutations will get cancer. And for those who do get cancer, it is not a death sentence!

Early diagnosis is the key to treating any cancer and it is also true for the cancers caused by BRCA mutations. In addition to the range of treatments that are available to cancer patients, such as surgery or chemotherapy, women with a BRCA mutation could also consider preventative treatments, including prophylactic mastectomy, a prophylactic oophorectomy, and chemoprevention (tamoxifen or raloxifene). If you adopt routine screening too, then you will increase the chances of catching cancers in the early, treatable stages.

Cancer has been studied extensively, and even though it can be a difficult road to walk, there has been huge progress in the detection and treatment of cancer.

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