Tags: breast | cancer | gene | test

Is Breast Cancer Gene Test Worth Getting?

By    |   Friday, 13 Feb 2015 04:33 PM

Question: My mother and grandmother both died from breast cancer, and I'm worried I might be at risk. My doctor is suggesting I get the breast cancer gene test. What can you tell me about it, and is there any downside?
 
Dr. Hibberd's answer:
 
Here are the facts: A positive BRCA gene test confers a very high risk for developing breast cancer, and prevention is available. But be aware that a famliy history of breast cancer is by itself a significant risk factor for you, regardless of your genetic test results.
 
A BRCA blood test evaluates two breast cancer susceptibility genes: BRCA1 and BRCA2. If a gene mutation is present, it means a woman’s breast cancer risk is as high as 50 percent to 80 percent over her lifetime. BRCA positivity is also linked to a 10-4 percent increased risk for ovarian cancer.
 
BRCA positivity is actually quite low in the general population (less than 0.12 percent for BRCA1 and 0.044 percent for BRCA2). But about 2 percent of women of Ashkenazi Jewish decent have the gene mutations.
 
That’s why BRCA screening is usually a good idea for those with Ashkenazi Jewish backgrounds and women with other risks, such as family members who have had breast cancer. We use these results to help guide our approach to prevention of breast cancer. General population testing is not advised.
 
Women are considered at risk if: 
 
1) Any close relative has been found to have BRCA1 or BRCA2 gene mutations.
 
2) Three or more family members of any age have been with diagnosed breast cancer or ovarian cancer.
 
3) Any one close relative who developed breast cancer under the age of 40; or any two family members developed breast cancer under age 50 or ovarian cancer of any age.
 
I strongly support BRCA testing of at-risk individuals even though cancers tied to the gene mutations are a minority of the overall number of breast cancers that are diagnosed.
 

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Here are the facts on who should get the breast cancer gene test.
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