Tuesday, May 21, 2013

Mastectomy for Genetic Defects and Angellina Jolie

MASTECTOMY FOR GENETIC DEFECTS AND ANGELINA JOLIE

The discussion resulting from Angelina Jolie's decision to undergo elective mastectomy has generated a few questions that should be clarified.

Angelina Jolie has a known defect in her genes that puts her at a higher risk for developing breast cancer than most women. The defect occurs in a part of her genetic makeup that has been labeled BRCA1. The BRCA1 genetic defect carried by Angelina Jolie gives her up to an 80% chance of developing breast cancer at some time in her life.

There are many other known genetic defects that can put a person (including males) at a higher risk for developing breast cancer. All of these defects are relatively uncommon. Roughly, the defects occur in less than 2-3% of the population, although there is variation between different races. The presence of the genetic defect does not imply that a patient will definitely get cancer. Likewise, the absence of any known genetic defect does not imply that a patient will not get breast cancer. 

Genetic testing for the presence of the more common known genetic defects in the sequences BRCA1 and BRCA2 can be determined with a blood test. However, this test typically costs several hundred to a few thousand dollars. Without a very strong family history of breast cancer (breast cancer in multiple first degree relatives) or breast cancer diagnosed at a young age (typically under the age of 40-50), it is very difficult to get insurance to pay for the test.

One option to manage this high risk is known as prophylactic bilateral mastectomy. A breast surgeon can remove the majority (but not all) of the breast tissue in both breasts. Because the majority of the breast tissue is removed, there is significantly lower risk for developing breast cancer. However, breast tissue that is too close to the skin, muscle or other vital structures cannot be completely removed. Therefore, there is still a small risk of developing breast cancer after the surgery. Also, the surgery is much more complicated than most breast surgeries such as breast augmentation and carries a higher risk of serious complication. 

Once the majority of breast tissue has been removed and the area has healed (many months), there are options to reconstruct the breast and give a more normal appearing breast contour which include breast implant augmentation. However, this reconstructive process is much more complicated than typical breast augmentation and the end result is never as aesthetically pleasing.

I commend Angelina Jolie for publicly sharing her experience with us. She has undoubtedly inspired many women facing similar decisions.

Hope this helps answer a few questions!

Ryan Polselli, M.D.
Breast Imaging


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