Category Archives: Genetic counseling

Breast Cancer Awareness

October is “Breast Cancer Awareness Month.”  It seems that some women would benefit more than others by becoming more “aware” about this disfiguring and potentially deadly disease.

Jessica Queller is a supervising producer and one of the head writers of the successful CW series “Gossip Girls.”  She has revealed publicly that she had a double mastectomy, even though she doesn’t have breast cancer, and in two years, plans to have her ovaries removed, even though she doesn’t have ovarian cancer.

Ms. Queller, 38, made these decisions after her mother battled breast cancer and then died from ovarian cancer at the age of 60.  Paranoia?  Nope.  It seems that Ms. Queller tested positive for the breast cancer mutation (BRCA1), so she had the mastectomy, followed up by reconstructive surgery.

The facts are that women who test positive for mutations in BRCA1 genes have up to an 87% chance of developing breast cancer, and a 44% risk of ovarian cancer by the age of 70.

Everyone has BRCA genes (both 1 and 2), but only a small percentage of people have the mutated genes:  about 1 in 800 have the mutated BRCA1, and fewer have the mutated BRCA2.  Mutated BRCA genes account for 5-10% of all breast cancers diagnosed in America.

If one parent carries the BRCA mutation, his or her offspring have a 50% chance of inheriting it.  Prophylactic mastectomy (i.e., removing the breasts as a preventative measure) reduces the risk of breast cancer by 90%.

As with other genetic mutation diseases (like Huntington’s), when there is a test for the mutation, do you want to know your fate?  Many vote “No,” and I find that amazing.  I understand the fear that goes along with realizing you are at significantly higher risk or actually have a potentially devastating disease, but knowledge is power and prophylaxis and treatment lower your risk of having the worst come to bear.

Breast cancer is extremely rare in men, but BRCA2 gene changes have been linked to male breast cancer and possibly prostate, pancreatic and colon cancer.  So it’s a good idea for men with family cancer histories also to consider taking the test.

To find doctors who do gene tests, and the counseling that is beneficial, call the cancer information service at the National Cancer Institute at 1-800-4-CANCER (1-800-422-6237).  To find a genetic counselor near you, contact the National Society of Genetic Counselors at 312-321-6834 or visit their website at www.nsgc.org.

Certain people have an increased chance of inheriting BRCA1 or 2 gene changes:

* Jewish women whose ancestors came from Eastern Europe, especially if they have parents or siblings with breast or ovarian cancer, or two incidences of such in aunts, uncles, and grandparents.
* If you’re not Jewish, but have significant instances of breast and/or ovarian cancer in your family, you are also at a higher risk of inheriting BRCA1 or BRCA2 changes.

As my dad was descended from Ashkenazi Jews (from Eastern Europe), and my maternal grandmother died of breast cancer, and my sister reported early pre-cancerous signs, I’m getting the genetic test.  I also do yearly mammograms, sonograms, and regular manual checkups.  At each yearly pelvic exam, we include a sonogram assessment of my ovaries, and each year for my regular checkup, I have various cancer marker blood tests done.

I’d rather know if and what I have to fight.