Genetic testing empowers breast cancer survivor

“As far as I know, there is no breast cancer in my family history,” says Annapolis resident Aileen Carlucci. But in the summer of 2008, she was diagnosed with breast cancer at the age of 49 after a routine mammogram.

Aileen’s early-stage cancer was treated successfully with surgery and radiation at The Breast Center at Anne Arundel Medical Center’s Geaton and JoAnn DeCesaris Cancer Institute. She completed her final radiation treatment on November 1st, 2008—the 18th birthday of her daughter, Christina—and has been cancer-free for more than five years, which means she is at low risk for her cancer to return.

“Fast-forward a few years, and you begin to forget,” says Aileen. “One day you wake up, and it’s not the first thing you think about, that, my God, I had breast cancer.”

But earlier this year, her friend Cynthia lost a battle with stage IV breast cancer. Before she passed away, Cynthia talked to Aileen about genetic testing. “She made me promise that I would inquire about genetic testing at my next oncology appointment.”

Uncovering Hidden Risk

In March, Aileen met with Ashley Allenby, a certified genetic counselor at the DeCesaris Cancer Institute. “We met in a comfortable room and sat on the couch,” says Aileen. “Ashley and I went through my family history, and I was surprised to learn that I did have risk factors for breast cancer.”

“People are referred for genetic counseling if they have certain red flags that mean they could have a genetic mutation that predisposes them to developing cancer,” says Ashley. “In Aileen’s case, she had been diagnosed with breast cancer before 50, which is one of the clues that we look for. She also reported Ashkenazi Jewish ancestry on her father’s side.”

About 1 in 500 people have a BRCA1 or BRCA2 gene that is mutated. This frequency is even higher in individuals of Ashkenazi Jewish (Central or Eastern European) ancestry, with 1 in 40 people carrying a mutation. People with a BRCA mutation have a higher risk for breast, ovarian and other cancers.

Experts estimate women with a BRCA1 or BRCA2 mutation have a 45 to 84 percent lifetime risk of developing breast cancer. In the general U.S. population, 12 percent of women develop breast cancer over their lifetimes. Moreover, women with either of these mutations have up to a 44 percent chance of developing ovarian cancer, compared to the general population’s risk of around 1.5 percent.

Questions to ask your blood relatives

• Who has had cancer in our family?

• What types of cancer?

• At what ages were they diagnosed?

• What ethnicity are my parents, grandparents, and great-grandparents?

• Has anybody in our family had genetic testing, and what were the results?

Empowering Information

“Ashley gave me an enormous amount of information,” says Aileen. She learned what the results of a genetic test would mean for her risk for other cancers, as well as the implications for her siblings and her children.

After the counseling session, she had her blood drawn. Four weeks later, Ashley called with the results: Aileen carries a BRCA2 mutation.

“In a way I felt vindicated,” says Aileen. “Now I know why I got breast cancer, and it was nothing that I did. It’s a family heritage. My biggest concern is my children.”

Her daughter and son each have a 50 percent chance of inheriting the BRCA2 mutation from her. This is of special concern for Christina, who is now 24, as experts recommend that women with a BRCA mutation begin enhanced breast cancer screening around age 25. These women may also want to consider preventive surgery or other methods to reduce their cancer risk.

Aileen accompanied Christina to her own genetic counseling and testing session in July. Christina was relieved to find out she does not carry the BRAC2 mutation.

“The goal, if we find a genetic mutation, is to reduce the risk for cancer or aid in early detection,” says Ashley. “I think it’s powerful information to have these genetic test results to be able to be informed and make proactive decisions.”

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Giving Back

Even before she was diagnosed, Aileen and her husband, Bob, were involved with Bosom Buddies Charities, which raises money to support early detection and treatment of breast cancer in Queen Anne’s County.

On January 9, she will be the honoree at the 2016 Bosom Buddies Ball at the Westin Hotel in Annapolis. Since 2007, the charity has donated more than $900,000 to support breast cancer care and treatment at AAMC.

“When I was diagnosed with breast cancer, I was in such a great place,” says Aileen. “It was because of the hospital and the encouragement they gave me, my friends in Bosom Buddies, and my family. I know how lucky I am. And I think early detection truly saves lives.”

Ashley Allenby is a certified genetic counselor at the DeCesaris Cancer Institute. Make an appointment for genetic counseling at 443-481-5864.

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