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DNA Diagnosis: How genetic testing can provide critical diagnostic guidance

Oct 07, 2015 02:00PM ● By Cate Reynolds
Brooke Jubb had big plans for 2015. She was looking forward to spending time with her beautiful 10-month-old daughter Blake, and she’d just passed the Maryland Real Estate Exam, putting her one step closer to her goal of becoming a real estate investor. Then, just a couple weeks before her 44th birthday, Jubb found a lump in her breast.

After that, everything moved like a whirlwind, she recalls. Jubb saw her gynecologist. Her doctor agreed the lump was concerning and immediately sent Jubb to The Breast Center at Anne Arundel Medical Center DeCesaris Cancer Institute.

“I got a diagnostic mammogram, an ultrasound and a biopsy all that same day,” Jubb remembers. “That was a Friday. We had to wait until Monday for confirmation, but I already knew.”

On Monday, Jubb learned she had infiltrating invasive ductal carcinoma, a common form of breast cancer. Nurse navigators Alyson Figlioli, RN, and Donna Lizewski, RN, helped arrange the next steps, including meeting with breast surgeon Lorraine Tafra, MD, and medical oncologist David Weng, MD. Her gynecologist also advised Jubb to consider a consultation with Ashley Allenby, AAMC’s cancer genetic counselor.

“My dad had died of cancer so I thought it was a good idea,” Jubb says.

Even before her appointment, Allenby set Jubb to work filling out a comprehensive family history.

“I have my patients dig into their families,” Allenby says. “To figure out what kind of testing, if any, a patient may need we really need their full story.”

According to Allenby, people often don't realize how many family members share a cancer history until they ask.

“Unfortunately, cancer is often not something people talk a lot about so sometimes it’s not until patients start asking questions that they learn their aunt or cousin or grandfather also had cancer.”

Jubb says she knew cancer ran on her dad’s side of the family, but didn’t know much more than that.

So, she says, she was a little “freaked out” to discover that, not only her father, but also, her paternal grandfather and grandmother had all died of cancer at the age of 69. Her father’s sister is 70 and suffers from lung cancer.

“It was like I had this family cancer cluster right in front of me and didn’t realize it,” she says.

Allenby recommended genetic testing for Jubb, and she agreed.

A few weeks later Jubb was told she carried a mutation in the BRCA1 gene. Having either a BRCA1 or BRCA2 gene mutation increases your lifetime risk for developing breast cancer up to 85 percent, and also increases your risk for ovarian cancer. If you’ve already been diagnosed with breast cancer, like Jubb, your risk for having another breast cancer could be as high as 65 percent.

It was a game changer for Jubb. Instead of a lumpectomy or a single mastectomy, she now needed to consider a double mastectomy and the removal of her ovaries. She didn’t hesitate.

“As far as I’m concerned, if it lowers my risk of cancer, this is what I need to do. I know people who struggle with the decision but I was alright with it.”

She credits her daughter for her clarity.

“One of the reasons it was so easy to say yes to a double mastectomy is that it gives me more assurance I’ll be around for Blake.”

Ashley Allenby says helping her patients make early, preventive care decisions is one of the things she loves most about her job.

“I’m giving information, but I’m also empowering patients to make decisions based on that information. So for someone like Brooke, yes she has breast cancer, but she hasn’t had ovarian cancer. So that is something that hopefully she will never have to deal with now that we know about the gene mutation and she can have risk-reducing surgery.”

As for Jubb, she admits she has her bad days but tries not to dwell on the fact that she has cancer. Instead she tries to think of all that is good in her life including a husband who makes her laugh, a mother who has become a hands-on grandmother helping raise her daughter, a medical team she adores, and a support system of family and friends she calls a blessing.

She’s even found the bright side of losing her hair. “People have told me I have a beautifully shaped head,” Jubb says laughing. So she’s given up on the wig, and instead has a collection of colored bandanas.

“My father always wore a bandana around his neck, and so when I wear mine, I think of him.”

And Jubb says she’s still ready for a great year.

“I need to get through this, and I will,” she says. “And I just can’t wait for 2016.”

Provided by Anne Arundel Medical Center