Monday, June 24, 2013

The Breast Cancer Gene

Angelina Jolie’s recent announcement that she had bilateral mastectomies without a diagnosis of cancer has everyone talking about the breast cancer genes.

Since the initial discovery of the breast cancer genes called BRCA1 and BRCA2, in the mid 1990s, researchers and clinicians have worked hard to create recommendations for those families that are affected by these gene mutations.

Through intensive cancer surveillance, chemoprophylaxis (medications to decrease risk), and risk reduction surgeries, such as Ms. Jolie’s, thousands of lives have been saved.

Dr. Mark Perlman from the department of OB/GYN and Surgery at the University of Michigan Medical School in Ann Arbor,Michigan, describes this as "the major scientific accomplishment in clinical cancer genetics during the past decade".

What does having this gene mutation mean?

What we do know about the BRCA gene mutation is that if you are found to have this type of mutation your risk of breast cancer by age 70 increases to 87% while the general population is only about 8%. This is a pretty scary jump in risk for the person with this mutation.

This mutation can also increase our risk for ovarian cancer. This risk would jump to 44% by age 70, while the general population risk is less than 1%.   Also very scary.

Are you only at risk for breast or ovarian cancer if you have the BRCA gene mutation?

The answer is No.  Approximately 1in 7 ovarian cancers are related to the gene and approximately 5-10% of breast cancers are related to this gene mutation.

How do I know if I should be tested for this gene mutation?


Here are 8 reasons why you should consider testing for this gene mutation.

  1. Personal history of breast cancer at age 50 or younger
  2. Ovarian cancer at any age
  3. Male breast cancer at any age
  4. Ashkenazi Jewish ancestry
  5. Two breast cancers in the same person or on the same side of the family
  6. Triple negative breast cancer at any age
  7. Pancreatic cancer and an hereditary breast or ovarian cancer in the same person or on the same side of the family
  8. A previously identified BRCA1 or BRCA2 mutation in your family

Discuss your family history with your Health Care Provider and consider a referral to a genetics counselor for further evaluation of your Family Tree.

Asking questions and discovering your family history will help you make informed health decisions for the future.

Knowledge is both Power and Hope.

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