BRCA do or BRCA don't?

Many women look to their favorite celebs to find out what the latest trends in fashion, music, movies and the like are, but what happens when that trend includes a double preventative mastectomy?  Angelina Jolie did it, does that mean I should too?  Women across the country are now debating if they should also get the BRCA (pronounced brack-ah) test.  My answer to you would be, that depends.

What is the BRCA test?
The BRCA test looks for harmful variants in your DNA in two genes named BRCA1 and BRCA2 which stand for BReast CAncer susceptibility genes 1 and 2.  BRCA genes are what are known as tumor suppressor genes and they make proteins that help with repairing damage to DNA.  If harmful variants are present in these genes, the proteins they make don't function properly, and therefore DNA damage is not repaired.  Over time this can lead to the development of cancerous tumors.

What does it mean if I have a BRCA variant?
Women that have harmful variants in BRCA1 or BRCA2 have over their lifetime a 5x greater risk of developing breast and a 10-30x greater risk of developing ovarian cancer than the average woman, and they often develop these cancers at an early age.  Furthermore, these women are also more likely to develop other types of cancer.  Men with BRCA variants are also at an increased risk of developing breast cancer and other forms of cancer.  That does not mean; however, that women who have a harmful variant in BRCA1 or BRCA2 will definitely get cancer, it just means she is at a great risk to develop cancer.

How common are BRCA variants?
The interesting thing about BRCA harmful variants is that they do not occur very often.  Statistics vary but suggest only 1 in 300 to 1 in 800 people have mutations in these genes.  Breast cancer, however, will affect approximately 12% of all women, so how can this be?  There are actually many different causes of breast cancer development, not just mutations in BRCA genes and in fact, BRCA genes are only responsible for about 5-10% of all breast cancer cases.  Therefore, most women who develop breast cancer will not have harmful variants in BRCA1 or BRCA2.
 
Should I get the BRCA test?
If this test was cheap or free, many women would likely elect to get the test done.  Unfortunately, this test is not inexpensive often costing in the thousands of dollars and may or may not be covered by insurance.  Given that most women who will develop breast cancer are not going to have BRCA harmful variants, who are the women most likely to benefit from this test?  Studies show that BRCA harmful variants often run in families and therefore mutations in these genes are said to cause a hereditary breast-ovarian cancer syndrome.  Because of this, the BRCA test may be most relevant to women with a strong family history of breast and/or ovarian cancer.  And even then it may be better to first test a family member who has breast or ovarian cancer to see if that person has a harmful BRCA1 or BRCA2 variant, then other family members can be tested.  For the general population, there are other tests that may be better (and cheaper) options for predicting your overall risk of developing breast cancer.


What should I do if I have a BRCA mutation?
If you are found to have a harmful variant in one of the BRCA genes, you should talk to your doctor about your options as there are things you can do to lower your risk of developing cancer.  One such option is preventative mastectomy which is the route Angelina Jolie decided to take.

To learn more visit: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA