THE BREAST CANCER GENE

My patient Christina is a 34-year old mother of two.  She works as a high school guidance counselor, runs 3 miles a day, but loves her job as a mom to Samantha, 5, and Gabriel, 3, the most.  And every day, she worries that she will die from breast cancer.

Christina’s mother died at age 40 after a short battle with the disease when Christina was only 9.    She has few memories of her mom outside of the hospital room.  As she gets older, she is afraid that she will suffer the same fate, and her children will grow up without their mother.

When Christina came to see me for her annual exam, she asked how she could get a mammogram.  She had contacted her insurance company but was told that she didn’t qualify for a screening mammogram until she was 40 years old.  Christina explained that she was too nervous to wait until 40, especially because that was her mom’s age when she died.

I asked Christina more details about her family history.  Her grandmother had also died of cancer, but it had started in the ovaries.  Once I heard this history, I knew that Christina needed to be tested for the gene mutations BRCA 1 and 2.

BRCA 1 and 2 are genes that are stop the growth of breast and ovarian cancer tumors in our bodies.  When there is a mutation in these genes, a woman is more susceptible to developing those cancers.  For a woman without the mutation, her risk of developing breast cancer is 12% and ovarian cancer is 1%.  A woman with the mutation has a 60% chance of developing breast cancer and a 40% chance of ovarian cancer.

BRCA 1 and 2 gene mutations can now be detected by a simple blood test.  Most insurance companies will cover the cost of the test if a woman has a family history of breast cancer.  However, it is important to remember that most women with breast cancer do not carry this gene mutation.  In fact, only 5-10% of all breast cancers are genetic.

Christina had her genetic testing done and was elated to find out that she does not carry the BRCA mutation.  While she still has a risk of developing breast cancer during her lifetime, as every woman does, she is not at the greatly increased risk that she thought she was.  She plans to continue with her monthly self-breast exams, her annual exams with me, and will start mammograms around age 40.

If you have a family history that includes breast, ovarian, or colon cancers, talk to your doctor to see if you are a candidate for genetic testing.  Finding out the results to this test can be empowering and life-saving.