BRCA – What does it mean, and how do I know if I have it?

What is BRCA?

BRCA is a gene, which is an acronym for ‘BReast CAncer gene’. It is a gene that is found in everybody’s DNA, however when it contains a mutation, or a mistake in the genetic code, it can hinder an important tumor suppression system in the cells of our body, resulting in breast cancer. This gene mutation can be passed down from generation to generation, which is why it’s important to be aware of which families contain this dangerous gene mutation, and catch tumors in very early stages of their formation.

If I have a mutation, will I definitely get breast cancer? 

Nothing is 100%, especially when it comes to biology or the human body. That being said, 12% of women will develop breast cancer at some point in their lives. 55 – 65% of women with the BRCA1 mutation will develop breast cancer before age 70, and 45% of women with a BRCA2 mutation will develop breast cancer by age 70. Those are 2 different types of a mutation to the same gene, BRCA.

Who should be screen tested?

There are two types of women who should consider genetic testing for a mutation in the BRCA gene. First, women who have a close family member who has been diagnosed with breast, ovarian, peritoneal or tubal cancer. If you fall into this category, it’s important to use one of the available tools together with a physician in order to determine if the risk is great enough to justify genetic testing. These tools include the Ontario Family History Assessment ToolManchester Scoring SystemReferral Screening Tool, or others.

The other section of women who should consider genetic testing are those who have just been recently diagnosed with one of these types of cancer. This depends on a number of factors, such as age of diagnosis, family history, and others. This should be discussed further with the treating physicians.

What can we do about it?

If it has been determined that your BRCA gene contains a mutation, there are a number of options of things that you can do. First of all, frequent screening for cancer is appropriate and necessary, and a plan should be created with your physician. Other options include medication, or prophylactic surgery. Medication has not been proven to reduce incidence of cancer specifically in BRCA mutations, though it has been shown to reduce the incidence of invasive breast cancer in the general population. Surgery, depending on the type, has been shown to be very effective in reducing the risk of developing breast or ovarian cancer, and should be considered.

Are these the only recommendations?

Of course not. There are many different bodies providing different recommendations, however they all begin with family history. One of the things that was not mentioned here however, is not just family members that were diagnosed with cancer, but also family members who have a known BRCA mutation. This is also something that should be brought up and discussed with your physician in order to determine your risk for carrying the gene mutation.

*Please comment to us if you found this information useful, or if you have any questions about the topic.

Knowledge is power. It’s very important for each of us to understand what our options are, and what evidence supports each option. Preventing diseases before they start is often the most efficient way to be healthy, and this starts by screening for the diseases that are appropriate for us depending on age, gender, and other factors. Download our app to go through a short list of questions, and receive a personalized list of the appropriate screening recommendations for you. More information about each of these tests is provided through the app, so that you can stay informed and educated.

 
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Here are a few studies which can give a little more insight as to the risks, benefits and efficacy of screening for a mutation of BRCA. Feel free to contact us for more information about the matter, we would be happy to provide it to you.

Lindor NM, McMaster ML, Lindor CJ, Greene MH; National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group. Concise handbook of familial cancer susceptibility syndromes: second edition. J Natl Cancer Inst Monogr. 2008:1-93.

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83(10):1301-08.

Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, et al. A new scoring system for the chances of identifying a BRCA 1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004;41:474-80.

Finch A, Metcalfe KA, Chiang J, Elit L, McLaughlin J, Springate C, et al. The impact of prophylactic salpingo-oophorectomy on quality of life and psychological distress in women with a BRCA mutation. Psychooncology. 2013;22:212-9.

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