BRCA 1 and 2- What Does It All Mean??

BRCA 1 and 2- What Does It All Mean??

Doctor: “You have perfectly healthy breasts with no signs of cancer.”

Patient: “I’d like you to remove them anyway.”

As Angelina Jolie just revealed, women are having dramatic conversations such as these, opting for surgery to lessen their breast cancer risk. What would drive a woman to such lengths? In most cases, genetics are the reason. If you have a genetic mutation or alteration in certain genes known to be associated with breast cancer, your risk for breast cancer may be drastically higher than the average woman. BRCA1 and BRCA2 (BReast CAncer genes 1 & 2) are the most common genes that when altered are associated with breast and ovarian cancer. The likelihood that you carry one of these genes is small: between 1 in 400 to 1 in 800. It’s important to know this genetic mutation can be passed onto you from either your mother OR your father’s side. Family history on both sides is important!

Estimates for the degree of risk vary. This is a simplified way of looking at it:

  • If we look at 100 women who have reached the age of 70 of average risk, 8 will have developed breast cancer in their lifetime.

  • If you have 100 women with an alteration in the BRCA1 gene, between 50 to 70 women will have breast cancer by the age of 70 (a 50-70% lifetime risk).

  • For BRCA 2 mutations, that number is estimated to be between 40 to 60 (a 40-60% lifetime risk).

Dramatic numbers, sometimes leading to dramatic conversations.

As we hear and discuss the cases of breast cancer related to genetics, it is important to remember only a small percentage of breast cancers have a genetic or hereditary cause. Over 90% of breast cancers are in women with no genetic component and no family members with breast cancer.

There are options for dealing with the risk associated with genetic alterations. Removing one’s breasts to decrease the chances of getting breast cancer (also known as a “prophylactic mastectomy”) is a highly proactive, preventative measure. It’s also a deeply personal choice, and not for everyone. Other options include medications, like Tamoxifen, and screening strategies that might include more frequent imaging with mammography, MRI and others.

As radiologists, we have the honor and opportunity to help save lives through early detection. On this blog, we also encourage healthy behaviors because the one thing better than early detection is no cancer at all. If you suspect you might have the BRCA gene, please talk to your healthcare provider about it,  and discuss your options, including the possibility of genetic testing if indicated. Knowing your family history is important information for providing you the best possible care available.

Lastly, if you have a BRCA gene mutation, it is vital to know that there are resources available to you. And you are not alone. Take hold of your health and know you have options.



Image Credit: Protein BRCA1 PDB 1jm7 by Emw Copyright Creative Commons Attribution-Share Alike 3.0 Unported

Originally posted 5/15/13 on