Cancer Demystified: BRCA Testing

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Cancer, it’s all in the Genes

So many questions this week have been asked regarding Angelina Jolie.  Why would someone who does not have cancer have both breasts removed? Do all breast cancer patients need to have genetic testing? Is the BRCA test full proof?

The BRCA test, which is a simple blood test, looks at two genes for mutations.  Women who possess a mutation of the BRCA1 and BRCA2 genes are at an increased risk of developing breast and ovarian cancer. The mutations are extremely rare: 24 people in 10,000 will be carriers of the mutation.  In the population of breast cancer patients, 5% of the cases are in women with the mutation; while the population of ovarian cancer patients is 10-15%.

Who needs tested for these mutations? Women who were diagnosed at a young age with breast cancer, women who have bilateral breast cancer, and women who have had both breast and ovarian cancer should be tested.  Other factors that suggest testing be performed are women with close family history of breast and ovarian cancer, those with relatives diagnosed at an early age, and women of Ashkenazi Jewish decent.  Studies have shown that Ashkenazi (Eastern European) Jews are 10 times more likely to have mutations in BRCA1 and BRCA2 genes than the general population.

If testing results are positive, what should be the next step?  Several options, which include increased screening for breast cancer with mammograms and MRI scans of the breasts every year, may be considered. Also suggested is a clinical exam every six months by a physician, along with monthly self-exams. Preventive medications (chemoprevention), which can reduce breast cancer risk for women at high risk of developing the disease, is another option, as is the use of  oral contraceptives, which  have been known to reduce the risk of ovarian cancer for the last 30 years. A final option is preventative surgery, including bilateral mastectomies and surgical removal of the ovaries, likely reducing the cancer risk by 90%. Unfortunately, surgery does not completely remove the risk of developing cancer.

Therefore, not everyone should be tested for the BRCA mutation.  But, if testing shows a positive diagnosis, options for action are available. This decision is a personal decision to be made by the individual affected, not just because Brad’s wife did it!

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