All in the Family
Breast Cancer Is Often Hereditary, Which Makes Thorough Assessments Critical

Breast cancer has a strong genetic component. One Alexandria resident and her family know this all too well.

After Juli Schull's routine mammogram last December revealed a "cluster of simple cysts," the radiologist recommended a six-month follow-up exam. But knowing that the Alexandria resident, then 46, had a sister with ovarian cancer, Schull's gynecologist, Tina Pham, MD, wasn't about to have her wait.

Based on Dr. Pham's recommendation and a colleague's positive experience, Schull, a Fairfax County teacher, sought a second opinion from David C. Weintritt, MD, FACS, Director of the Breast Care Institute at Inova Mount Vernon Hospital, who immediately performed a breast ultrasound. The results coupled with Schull's family history warranted a needle biopsy. "When Dr. Weintritt couldn't draw fluid from the suspicious area, he knew it was a tumor," Schull recalls.

The following day, she underwent a core biopsy to remove tissue for further study. A week later, Schull learned she had stage 1 breast cancer. "If Dr. Pham hadn't urged me to get another opinion and Dr. Weintritt hadn't been so thorough, my cancer would have been diagnosed at a much later stage," she explains.

Dealing with Diagnosis

People often are frightened and
overwhelmed by a cancer diagnosis. But Dr. Weintritt's
repeated assurance that he had a
plan kept Schull from feeling lost.
Over the next several months,
she underwent surgery to remove
the tumor and a wide margin of
surrounding tissue, magnetic
resonance imaging (MRI) and four rounds of chemotherapy. She also consulted with a radiation oncologist.

Within a family, there is a strong link between ovarian cancer and breast cancer. "While waiting for the pathology report, we discussed how genetic testing for one of the BRCA [breast cancer gene] mutations would be a good idea," says Dr. Weintritt. "Juli agreed and tested positive for the mutation that strongly increases the risk of developing both cancers."

Armed with that information and a strong desire to optimize her health, Schull elected to have her ovaries, uterus and breasts removed. Seven months after her mammogram, Schull has recovered from surgery and is cancer-free. "I reduced the potential of her getting another cancer from 60 percent to 1–2 percent," Dr. Weintritt says. "Her success story clearly demonstrates how taking the time to properly assess patients leads to better outcomes."

It's in the Genes

Schull's evaluation and diagnosis also had important implications for her family. "In essence, we decoded the reason why Juli had breast cancer and why her sister has ovarian cancer," says Dr. Weintritt. "This prompted testing of Juli's two other sisters so they could be properly treated as well."

Like Schull, her sister, Priscilla Stapula, 48, a human resources specialist from Lorton, had heard about the BRCA gene mutation but didn't know much about it.

Within a week of Schull's positive finding, Stapula had a breast MRI, a transvaginal ultrasound and genetic testing. "With two out of four sisters having cancer, if I'm positive as well, I want it out," she thought at the time. In June, upon learning she tested positive, she, too, had an ovo-hysterectomy. A second-opinion pathology study revealed fallopian tube cancer.

As of mid-July, Stapula was preparing to consult an oncologist regarding possible additional treatment. Both Stapula and Schull will meet with a genetic counselor to determine when their children need to be tested. "As sad as I am that Juli was positive, I'm glad they did the genetic test," Stapula says. "Otherwise, I wouldn't have made the decision to be tested and have the surgery when I did."

The two women have learned that their father had two sisters with breast cancer and that men can carry the mutated BRCA gene as well as develop the disease. As the sisters support one another through their cancer journeys, they urge others to learn their family health history, do monthly breast self-exams, follow their physician's recommendation for mammograms and undergo genetic testing, when indicated. "Early detection is key," says Schull. "And always seek a second opinion from a doctor who does a thorough assessment — it saved my life."