What is the BRCA gene and why did Angelina Jolie have a mastectomy?

By Guest Blogger: Serena D. Tidwell M.D, Midtown OB/GYN

BRCA GeneThis Spring two events have increased public awareness of BRCA genes.  The one most of you are likely familiar with is Angelina Jolie’s announcement of her positive gene status and her decision to have a prophylactic mastectomy.  Her Mom was diagnosed with Ovarian Cancer at a young age. Her aunt Debbie Martin was diagnosed with Breast Cancer and recently passed away.

Our office has received many calls asking about who needs the test. When looking at your family history, look at your first degree relatives (Parents, Siblings) and your second degree relatives (Grandmothers, Aunts, etc.).

If you have breast or ovarian cancer in your family I would encourage you to see if you meet the guidelines for testing.  The full guidelines are available from many sources, but a good resource is www.hereditarycancerquiz.com.

I want to reassure you that our current understanding is that only 10-15% of breast or ovarian cancers are genetic, and the others are sporadic.

Many women have a family history of breast cancer; yet most are not BRCA positive.  The age of your family members at time of diagnosis is important (Less than 50 is more concerning for a BRCA mutation) and the number of family members is also important.  Other rare cancers like male breast cancer or fallopian tube cancers are concerning for BRCA mutations.

Angelina Jolie Cannes 2011I’m glad that Angelina Jolie came forward.  In reading her statement, it sounds like she had a nipple sparing mastectomy which provides an excellent cosmetic result but does impact nipple sensation.  BRCA testing can be done by a blood sample or a “swish and spit” oral collection of cells.  The cost is high; however, under the Affordable Care Act it will be considered preventive health and will thankfully be covered.  This should go into effect next year.

In the beginning, I said two events – so what’s the second?  A small Indie film starring Helen Hunt as Dr. Mary-Claire King – an amazing woman who championed the discovery of BRCA genes in the mid 1990’s.  Check out www.decodingannieparkerfilm.com.

Dr. Serena Tidwell is an OB/GYN with Midtown OB/GYN.  She completed residency at Wake Forest University after graduating from The Medical College of Georgia and Emory University. She is the 2012 winner of our Moms’ Choice Award for Best OB/GYN.

 Image Sources: Wikipedia Commons

Comments

  1. Carrice says:

    Great information!

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