BRCA gene mutation: The facts
Posted on 17th December 2021 at 09:57
There are many risk factors associated with developing cancer; your age, your weight, your diet and other lifestyle choices can all contribute to your risk, as well as the genetic factors which can be passed through families. One such genetic risk is the BRCA gene mutation, which can be responsible for causing cancers of the breast, prostate, ovaries and pancreas.
You may be surprised to learn that everyone has the BRCA1 and BRCA2 genes and they usually protect us from breast cancer, however structural changes to the gene, or gene mutations, interfere with the proper function of the BRCA genes and stops them from performing accurately.
Approximately one in individuals in the UK will have the mutated BRCA gene, which translates to up to a % chance of developing breast cancer by the age of 80.
Testing For The BRCA Gene Mutation
Testing for the BRCA gene mutation is usually performed after a relative with cancer has a diagnostic blood test to see if they have a cancer risk gene. If they receive a positive result, their family are able to be tested to see if the mutation has been inherited. A simple blood test will be taken and it can sometimes take up to 4 weeks for a result to be received.
Although it may be fear-inducing to discover that you have the mutated BRCA gene, and many people suffer from negative mental effects, the information should be seen as empowering as it gives you options to work with your doctor and caregivers to strategize preemptive and proactive treatment and prevention.
Knowing that you have the BRCA mutation does not mean that you will definitely get breast cancer, although the risk factors are obviously significantly higher.
Post-Testing Options
There are a number of different ways that we can approach a positive BRCA mutation test and each case will require a different level of proactivity.
Many women decide that the risk is too high and opt for preventative surgery to remove tissue from both breasts, followed by surgical reconstruction. While this may seem drastic, it’s a choice that many women see as an easy compromise to make, for the sake of their health.
Given that there is also an increased risk of ovarian cancer, many women also make the choice to have their ovaries and fallopian tubes removed, but this usually depends on their age and whether they have or plan to have children.
Other patients will opt for a more conservative approach of more regular self-examination and screening, which will help to detect any early formations of cancer within the breast. Catching cancer early increases its treatability and can make medical intervention much more effective.
There are drugs available for patients at a very high risk of cancer, called chemo-preventatives, and these can reduce your risk of developing breast cancer, despite a positive BRCA mutation, for many years.
Lifestyle Changes
Regardless of any treatment options you may consider, for almost all BRCA-mutation patients, there are benefits to be had from making certain lifestyle changes. Aside from managing your weight and eating a balanced, non-processed diet, avoiding alcohol can reduce your risk factors in the long run.
You may also want to consider the type of contraceptives you use. The oral contraceptive pill can put users at a higher risk of developing breast cancer, so if you already have a genetic predisposition, choosing a non-hormonal form of contraception is a good idea.
Increasing your movement can have a profound effect on your risk of developing breast cancer; studies show a 20-30% reduction when comparing women who are very physically active with those who are mostly sedentary.
Statistics Around BRCA-mutation Inheritance
According to Macmillan Cancer Support, the figures you need to bear in mind are as follows:
A woman who inherits a BRCA1 or BRCA2 mutation:
has a high risk of breast and ovarian cancer
has a 1 in 2 (50%) chance of passing the mutation on to each of her children.
A man who inherits a BRCA1 or BRCA2 mutation:
may have a small increase in his risk of developing breast cancer (this is mainly if he has the BRCA2 mutation)
may have a higher risk of prostate or pancreatic cancer (mainly BRCA2)
has a 1 in 2 (50%) chance of passing the mutation on to each of his children.
Next Steps
If you’re worried about your risk of developing breast cancer or have a relative who has battled the disease, we highly recommend being tested for the BRCA gene mutation. Knowing your status will give you the knowledge to take your health into your own hands and make decisions that suit you.
There are benefits to each approach, whether you opt for preventative surgery, increased screening or medication, and knowing in advance will also enable you to reach out to friends and family for the support that you may need to help you to make decisions regarding your options.
Conclusion
As far as the BRCA gene mutation is concerned, knowledge is power. Regardless of your BRCA status, checking your breasts on a regular basis, whatever your age, size or shape and knowing what is ‘normal’ for you can help you to identify changes as they may happen.
It’s also important to remember that a negative test for the BRCA gene mutation does not mean that you will never develop breast cancer, or the other types of cancer associated with this gene and remaining vigilant with self-examination is essential.
Tagged as: Gene mutation
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