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Uncovering Breast Cancer Risk Through Genetic Testing

“Our patients appreciate the time we take to answer all their questions, the personal attention they receive, and the concierge type of care we offer.”
– Molly Sebastian, MD, FACS Medical Director, The Reinsch Pierce Family Center for Breast Health

My mother died from breast cancer four years ago at age 48,” says Leanne Gray, 25, of Washington, DC. “She had first developed breast cancer when she was 30, and had been treated, but she found a second cancer in 2011. My grandmother had breast cancer, as well.” Concerned by her family history, Leanne read about BRCA gene mutations that can affect cancer risk. A proactive advocate for her own health, she decided she wanted to be tested for a mutation.

Leanne’s primary care physician referred her to Patricia Rodriguez, MD, Chief of Oncology at Virginia Hospital Center, and an expert in the field of cancer genetic risk assessment. It is recommended by the National Cancer Community Network (NCCN) that women have genetic counseling before being tested, so they know what to expect and can be prepared for the choices they will make. Leanne underwent genetic counseling in Dr. Rodriguez’ office prior to being tested.

While 70% of breast cancer is sporadic (not genetic), 30% is familial in nature. The mutations that have received the most attention are in genes known as BRCA1 and BRCA2, which are associated with significant increased risk of breast and ovarian cancer. Leanne tested positive for a BRCA1 mutation.

Dr. Rodriguez recommended Leanne have aggressive screening for breast cancer every six months, alternating mammograms and breast MRI, along with breast exams twice a year. Three years later, one of those MRIs detected something abnormal in one of Leanne’s breasts. A biopsy determined it was very early breast cancer: a small, 1 mm, stage 1 invasive cancer in an area of Ductal Carcinoma in Situ (DCIS). A DCIS is not life-threatening, but can increase risk of developing invasive breast cancer later.

Leanne met with breast surgeon Molly Sebastian, MD, FACS, Medical Director of The Reinsch Pierce Family Center for Breast Health, and Dr. Rodriguez, as well as other specialists in radiation oncology and plastic and reconstructive surgery, to discuss different treatment options. Virginia Hospital Center offers a comprehensive spectrum of breast cancer treatment. All of the medical specialties, and all of the services needed to diagnose, treat and support breast cancer patients, are conveniently located under one roof.

“Because my cancer was found so early, I had the luxury of time to meet with all my doctors and get as much information as I could to make a decision,” says Leanne. “I initially considered having a lumpectomy and radiation. However, with my high risk of recurrence due to my BRCA1 mutation, all of the physicians agreed that I would need bilateral mastectomies within ten years.”

Leanne thought it over and ultimately decided to go ahead and have bilateral mastectomies. “We used a technique known as bilateral nipple-sparing mastectomies,” says Dr. Sebastian. “This technique hides the scar in a natural skinfold.” According to Dr. Sebastian, a growing number of young women are having bilateral mastectomies to treat cancer and to address their genetic risk. “Part of the reason they feel comfortable with bilateral mastectomies is this hidden scar approach,” she says.

Leanne was also able to have immediate breast reconstruction during the same surgery. Dr. Sebastian removed the breast tissue and a plastic surgeon, Steven Davison, MD, FACS, inserted breast implants.

“This was the best possible outcome,” says Leanne. “I will continue to have regular screening for ovarian cancer, but I was able to treat my breast cancer early and took all the steps to prevent a second breast cancer from developing. The more stories like mine that are shared, the more women will learn about BRCA mutations and become more active in their own health decisions.”

“People are scared to have genetic testing because they don’t understand,” says Dr. Rodriguez. “They think of it as a death sentence. Instead, it’s information you can act on. We have very good data that can help you make decisions that will alter your risk and improve your health in general.”

“People are also fearful they will lose insurance if they are found to have a genetic mutation,“ adds Dr. Rodriguez. “This is simply not true.”

When should a woman consider being tested for a BRCA mutation? According to the NCCN, a woman should be tested if she has a history of breast cancer occurring in family members under age 50, multiple family members with breast cancer, or any family history of ovarian cancer. Most tests are covered by insurance for those who meet the criteria.

“If Leanne had not been tested, she would not have been watched so closely and her cancer would not have been found as soon as it was,” concludes Dr. Rodriguez. “By knowing her risk, Leanne was able to make informed, proactive decisions to protect her health.”

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Leanne Gray
“Because my cancer was found so early, I had the luxury of time to meet with all my doctors and get as much information as I could to make my decision.”
– Leanne Gray, Breast Cancer Survivor

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