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Should you take the BRCA1 and BRCA2 gene test?


In May, the New York Times published an Op-Ed letter from actress Angelina Jolie, in which Ms. Jolie shared that she elected to undergo a bilateral mastectomy and breast reconstruction after testing positive for the BRCA gene mutation. Her physicians estimated her lifetime risk of developing breast cancer was 87% and her risk of ovarian cancer was at 50%. Revelation of Ms. Jolie's decision has spurred increased awareness and renewed discussion about the options available to women with increased individual risk of breast cancer.

While BRCA1 and BRCA2 gene mutations have garnered significant attention over the past several years, these mutations are only associated with approximately 5-10% of breast cancer cases. Routine testing for gene mutations remains highly controversial for the general population, but is generally advocated for women with a strong family history of breast or ovarian cancer, such as Ms. Jolie, whose mother and aunt both developed cancers. Another group of women for whom genetic testing may be suggested are those who develop breast cancer at early ages. Women without elevated risk factors are advised to undergo routine screening mammograms starting at age 40, but not genetic testing. As medical science and technologies continue to advance, the role of genetic testing will invariably continue to be a topic of discussion.

For women who elect to undergo mastectomies, rather than close monitoring, recent advances in breast reconstruction allow superior aesthetic outcomes. This begins with close coordination between a woman's breast surgeon and her plastic surgeon. The surgical planning of the mastectomy should take into consideration optimizing the final breast shape. This includes techniques such as nipple-preserving mastectomies and surgical techniques which reshape the breast like those done in a breast reduction or breast lift. By combining skin-preserving mastectomies with advanced plastic surgery techniques, women can have more natural-appearing reconstruction than ever before.

Several high profile personalities have publicly shared their treatment for either breast cancer or a BRCA mutation in the recent past including singers Melissa Etheridge and Sheryl Crow, actresses Christina Applegate and Giuliana Rancic, ABC News anchor Robin Roberts, and Ms. Jolie. These women have shared their diagnosis, treatment choices, and recovery with the public. Each woman made individual decisions about how to manage her diagnosis based on her individual goals and her personal and family history. Each woman made a choice. Each woman made her choice.

Choice begins with the decision to be proactive in one's health care- to do proper monthly self- breast exams, an annual physician exam, and receive routine mammograms. If an abnormality is found, choose a Breast Cancer Team where the breast surgeon, plastic surgeon, and, if needed, oncologists, work closely together throughout the entire course of treatment. Choose a treatment that is best for you, not what a particular celebrity, friend, or family member chose, but one that is best for you.

Genetic testing and prophylactic mastectomies are not for every woman. Each woman considering these options should undergo appropriate counseling and testing in order to make an informed decision. This empowers women to make the best individual decision for their lives. Ms. Jolie should be commended for her strength and for sharing her private decision to empower other women, but we must not forget the thousands of women who have also made the same decision, and the thousands of others who have made the decision to undergo close monitoring. It's all about choice.

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