Ladies, Should You Get BRCA Testing?

BRCA1 and BRCA2 mutations increase risk for breast and ovarian cancer.

Lots of you know that BRCA testing has something to do with breast and ovarian cancer.  However, that's about all most people know about BRCA1 and BRCA2 mutations, and if it hadn't been for Angelina Jolie testing positive for the BRCA1 mutation and subsequently receiving prophylactic mastectomy (elective breast removal) and later prophylactic salpingo-oophorectomy (elective removal of the fallopian tubes and ovaries), most Americans wouldn't even know this much.


A cynic may claim that the fact that most people know little about BRCA testing is a good thing.  After all, there's still a lot we don't know about BRCA mutations, and many think that we shouldn't rely on a test that detects a mutation that we now little about to make weighty healthcare decisions including prophylactic mastectomy and salpingo-oophorectomy in order to prevent future cancer.

Nevertheless, despite what critics say, lots of physicians still believe in the power of BRCA testing in order to detect predisposition for hereditary breast and ovarian cancer--especially because unlike breast cancer, there's no good screening for ovarian cancer.  Because BRCA testing is popular and may confer preventive health benefit in a minority of women, it's a good idea for you to better understand this diagnostic modality.

BRCA Mutations

BRCA1 and BRCA2 are tumor-suppressor genes.  When a woman inherits mutations in either of these genes that effects both alleles, her risk for hereditary breast and ovarian cancer skyrockets.

  Specifically, with BRCA1 and BRCA2 mutations, the risk of eventually developing breast cancer is more than 80 percent; whereas, the risk of developing ovarian cancer is about 40 percent with BRCA1 mutation and 20 percent with BRCA2 mutation.

Breast and ovarian cancer linked to BRCA mutations are commonly aggressive and typically strike at younger ages (think women in their mid-20s).

  In order to combat this insidious threat, very smart people came up with a genetic blood or saliva test which can be performed in an outpatient or clinical setting. 

Should You Get Tested for BRCA?

First off, only 5 percent of breast cancers are heritable and passed down by either your moms or pops.  Thus, BRCA testing isn't for everyone is by no means a general-screening measure.

When considering whether you're a good candidate for BRCA testing, your physician will consider the following risk factors:

  • Ashkenazi Jewish heritage
  • first-degree relative with breast cancer before 50
  • relative with bilateral breast cancer
  • personal or family history of ovarian cancer
  • family history of peritoneal cancer
  • both breast or ovarian cancer present in a relative
  • two or more relatives with breast cancer
  • male family member with breast cancer

If you have a family history for BRCA mutation, you're tested only for the type of BRCA mutation that runs in your family: BRCA1 or BRCA2.

What to Do If You Were to Test Positive for BRCA1 or BRCA2 Mutation?

There's much debate concerning how to proceed with a positive BRCA1 or BRCA2 test result.

  Here are some possible risk-management strategies:

  • routine surveillance including mammograms, MRI, ultrasound and measurement of cancer-antigen 125;
  • chemoprevention with chemotherapy agents tamoxifen or raloxifene;
  • risk-reducing mastectomy or salpingo-oophorectomy.

Please note that removing breasts. ovaries and fallopian tubes is merely one risk-management option, and choice of this option depends on your specific clinical situation.  Furthermore, although mastectomy removes most breast tissue, it doesn't remove all breast tissue, and there's still a small chance that you may still develop cancer.  Finally, such surgery is performed only after months of genetic counseling and surgical evaluation.

If you feel that you may be at risk for hereditary breast or ovarian cancer, it's a good idea to discuss this suspicion with your primary care physician or obstetrician-gynecologist.  Of note, the CDC suggests that concerned women use the Know:BRCA tool to assess personal risk.  After obtaining a detailed personal and family history, your physician may decide that you are a good candidate for BRCA1 or BRCA2 testing.

Selected Sources

Hunt KK, Robertson JR, Bland KI. The Breast. In: Brunicardi F, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, Pollock RE. eds. Schwartz's Principles of Surgery, 10e. New York, NY: McGraw-Hill; 2014. Accessed June 25, 2015.

LeBlond RF, Brown DD, Suneja M, Szot JF. The Female Genitalia and Reproductive System. In: LeBlond RF, Brown DD, Suneja M, Szot JF. eds. DeGowin’s Diagnostic Examination, 10e. New York, NY: McGraw-Hill; 2015.. Accessed June 25, 2015.

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