Ilene’s Story: Genetic Testing Saved My Life

Ilene, the eldest of three sisters, was devastated. Her middle sister, Laura, had recently been diagnosed with breast cancer at age 44. The family, already very close, became even closer as they supported Laura through her treatment and recovery.

Because of her age and Ashkenazi Jewish ancestry, Laura’s doctors suspected that she may be carrying a gene mutation that made her more susceptible to breast and ovarian cancer — and they were right. Genetic testing determined that Laura had a BRCA gene mutation, and her doctors recommended that both Ilene and Deena (the youngest of the three sisters) consider genetic testing to see if they, too, were at increased risk.

The names BRCA1 and BRCA2 stand for BReast CAncer susceptibility gene 1 and BReast CAncer susceptibility gene 2. BRCA1 and BRCA2 belong to a class of genes known as tumor suppressors.

“When functioning normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way,” says cancer genetics expert Generosa Grana, MD, Director of MD Anderson Cancer Center at Cooper. “When certain changes or ‘mutations’ in the BRCA genes occur, cells are more likely to divide and change rapidly, which can lead to developing cancer.”

The average lifetime risk of breast cancer for women is about 12 percent. For women who have a BRCA1 or BRCA2 abnormality, the lifetime risk of developing breast cancer is between about 60 percent and 85 percent — about three to seven times greater than that of a woman who does not have the mutation. The lifetime risk of ovarian cancer is significantly elevated as well: 16 percent to 44 percent, versus just under 2 percent for the general population.

Ilene and Deena made an appointment to meet with a genetics counselor at MD Anderson Cooper. After a thorough evaluation of their cancer risk, they both decided to undergo genetic testing.

There was good news and bad news.

Deena’s testing results showed that she was negative for the BRCA mutation, but Ilene was positive.

Even with the gene mutation, there are steps that can be taken to reduce the risks, including enhanced breast cancer screening, risk-reducing surgeries, and chemoprevention, in which drugs are used to try to reduce the risk or delay the development of cancer. The physicians and genetics counselors at MD Anderson Cooper’s William G. Rohrer Cancer Genetics Program provide men and women with a full understanding of each of their options.

Armed with this information, Ilene decided to take action and have preventive surgery.

“My first course of action was to have my ovaries removed. Taking this step also would reduce my risk of breast cancer,” says Ilene.

“Research has shown that premenopausal women with BRCA gene mutations who have their ovaries removed also reduce their risk of breast cancer,” says David P. Warshal, MD, Head of the Division of Gynecologic Oncology and Director of the Gynecologic Oncology Center at MDAnderson Cancer Center at Cooper. “By taking this step, the risk of an ovarian-type cancer is reduced by 90 percent, and the risk of breast cancer is cut by up to 50 percent.”

Two weeks after her surgery, at her follow-up visit, Ilene’s life took another turn.

“My surgery had not protected me,” says Ilene. “The pathology studies showed that I already had ovarian cancer!”

“I just sat in the car and cried. I didn’t expect to hear that I had cancer,” says Ilene. “And then I realized that my sister’s cancer, and genetic testing, had saved my life.

“My cancer was caught very early. If Laura hadn’t been diagnosed and I didn’t undergo genetic testing, the ovarian cancer would have continued to grow and spread. I probably wouldn’t have known about it until it was in advanced stages.”

“Ovarian cancer is difficult to detect, especially in the early, most treatable stages,” says Dr. Warshal. “Because the signs and symptoms of ovarian cancer are subtle and common, they are often ignored or attributed to other minor conditions and left unexplored.”

“I was one of the lucky ones,” says Ilene. “Stage two ovarian cancer is treatable.”

When Ilene called her parents to tell them that a second daughter was diagnosed with cancer she said, “We just found out why Laura has cancer — it was to save my life.”

“Dr. Warshal mapped out a treatment plan of hard-hitting intraperitoneal chemotherapy over five months,” says Ilene. “I was enthusiastic about having the opportunity to undergo this innovative treatment option — it’s not available everywhere and it significantly improved my chances for a good outcome.

“Along the way, I was cared for by incredible, expertly trained, compassionate MD Anderson Cooper nurses. They were honest and knowledgeable and knew how to talk to patients fighting cancer.”

Today, with the support of her husband, three children, sisters, parents, and what Ilene calls an “army of family and friends,” Ilene is cancer free, and doing well, as is Laura.

She is an active member of the Pink Roses Teal Magnolias Committee, which hosts an annual brunch each October. The funds raised through this event (more than $650,000 in 2015) support breast and ovarian cancer research and clinical programs at MD Anderson Cooper. Ilene also started a new career as a residential real estate agent and donates her time to national and regional ovarian cancer awareness organizations.

To make an appointment or for more information about the William G. Rohrer Cancer Genetics Program at MD Anderson Cooper, call 1.855.MDA.COOPER (1.855.632.2667).

Leave a Reply

Your email address will not be published.