Fall 2013
Facing the BRCA gene: Twin journeys

Twins Bonnie McIlhoney (left) and Brenda LaConte faced difficult choices because they have the BRCA1 gene.

Brenda LaConte and Bonnie McIlhoney closely followed last May’s media reports of Angelina Jolie’s preventive double mastectomy after testing positive for the BRCA1 gene, which put the actress at high risk of breast cancer. For the fraternal twins, it was more than news. It was personal.

Like Jolie, both sisters, who share a house in Stratford, have the BRCA1 gene, a link to hereditary and ovarian cancer. Like the actress, the sisters faced and made difficult choices. But unlike Jolie, there were no headlines. Only quiet conversations with family and close friends.

The positive emotional and physical results of their difficult choices, especially the final step – breast reconstruction by Anke Ott-Young, MD, PhD, oncology plastic surgeon – led the sisters to heed the advice of their entire medical team at Bridgeport Hospital’s Norma F. Pfriem Breast Care Center: Share your different journeys with other women.

A mammogram that wasn’t routine
The first journey began in June 2009. Brenda was diagnosed with breast cancer. “I had a routine mammogram and they found something in my left breast,” she recalled. Her Ob/Gyn referred her to Mary Pronovost, MD, medical director of the hospital’s Norma F. Pfriem Breast Care Center and breast cancer surgeon who partners with Dr. Ott-Young and whom Brenda met with first. Dr. Pronovost confirmed the diagnosis with a biopsy.

Shortly after, Brenda, accompanied by her sisters Bonnie and Sherri, met with Dr. Pronovost and Dr. Ott-Young at their office in Fairfield, part of the Norma F. Pfriem Breast Care Center. “I was given three options: a lumpectomy to remove the tumor, removing the entire breast or having bilateral mastectomies (removing the left breast to treat the existing cancer and the right as a preventive mastectomy),” said Brenda.

Knowing breast cancer took their mother at age 52 and that their grandmother died of ovarian cancer, Brenda chose bilateral mastectomies, which were performed in October 2009. Rounds of chemotherapy followed. “I just wanted to get rid of any chance of cancer,” said Brenda about her decision.

Dr. Pronovost and Dr. Ott-Young completed the surgery and breast reconstruction the same day, a procedure that for other surgeons can often require several sessions.

“While we collaborated as early as 2000, our real partnership managing breast cancer began in 2006 when Dr. Ott-Young returned from a fellowship in Germany where she became familiar with oncoplastic techniques,” explained Dr. Pronovost. “We worked together in incorporating these techniques, which allow many of our patients to have their mastectomies and immediate reconstruction in one setting.”

“Another major advantage for our patients is having a dedicated breast center at Bridgeport Hospital, which most other hospitals do not,” added Dr. Ott-Young.

Testing for the BRCA gene
Brenda’s diagnosis of breast cancer included another key step: genetic testing at the Norma F. Pfriem Breast Care Center in Fairfield. Did she carry the BRCA gene?

“Once a patient is diagnosed with breast cancer, we look at age, family history and tumor features to determine if gene testing is warranted,” said Dr. Pronovost. Brenda qualified and was tested to help determine the best treatment plan, explained Dr. Pronovost.

Testing was done in the office, with the help of Sally Cascella, MAHSN, RN, senior nurse educator/navigator hereditary breast and ovarian cancer specialist, who is trained to counsel and educate patients about the BRCA mutations. The results were what Brenda feared – positive for BRCA1.

“Knowing she had the BRCA1 mutation helped Brenda chose the bilateral mastectomies,” explained Dr. Pronovost. Her test results also created a ripple effect through the family. Bonnie quickly agreed to testing, along with their brother Vinny and sister Sherri. But only Bonnie, Brenda’s fraternal twin, tested positive. In fact, only 10-15 percent of women diagnosed with breast cancer carry the BRCA gene, said Dr. Pronovost. “In the general population, the gene mutation is only 1 in 345.”

“I got my gene-testing results the same day Brenda was scheduled to have her preventive hysterectomy/ oophorectomy (removing the ovaries),” recalled Bonnie. Except it wasn’t preventive. The doctors discovered cancer in Brenda’s fallopian tubes and elsewhere. That meant a total abdominal hysterectomy, followed by more rounds of chemotherapy.

According to Dr. Ott-Young, generally the risk of breast cancer for those with the BRCA1 gene (usually found in younger women) or BRCA2 (older women) is 60- 80 percent, and 30-40 percent for ovarian cancer. “Having both cancers is not that common. It’s also harder to detect ovarian cancer at an early stage.”

But for Bonnie, Dr. Pronovost explained that her risk for developing breast cancer was about 70 percent, and the risk for ovarian cancer was 40 percent because of her gene profiling and family history. “That made my decision easy,” she said. Bonnie elected a total abdominal hysterectomy (December 2010) and bilateral mastectomies (March 2011). A second journey began, different than Brenda’s because it was completely preventive, but one that Brenda supported. “In her situation, having tested positive for the BRCA1 gene and not having cancer, I would have done the same thing.”

About BRCA1 and BRCA2

These two genes are part of a class called tumor suppressors. The initials stand for BReast CAncer susceptibility gene 1 and BReast CAncer susceptibility 2.

Mutations of these genes can be linked to hereditary breast cancer and ovarian cancer. Inheriting either the BRCA1 (usually found in younger women) or BRCA2 (usually in older women) greatly increases a woman’s risk of breast and/or ovarian cancer.

In normal healthy cells, BRCA1 or BRCA2 help keep a cell’s genetic material (DNA) stable, preventing uncontrolled cell growth.

A woman significantly increases her lifetime risk of breast cancer and/or ovarian cancer if she inherits a mutated BRCA1 or BRCA2.

Now, four years after Brenda’s bilateral mastectomies and total abdominal hysterectomy, both sisters remain free of breast cancer, while Brenda continues treatment for ovarian cancer. “I’m told that ovarian cancer can recur in the first five years after surgery,” she said. “If it doesn’t recur within five years, chances are good that it won’t. The same is true for breast cancer.”

Skilled breast reconstruction
Another healthy outcome for both sisters: Dr. Ott- Young’s skills with nipple-sparing and breast reconstruction enabled Brenda and Bonnie to feel healthy about their self-image. “Surgery was so easy and our breast reconstruction was amazing,” said Bonnie, who compares her results and Brenda’s to breast reduction. “Before this all happened, breast reduction was something we actually both considered.”

The results were so positive, said Bonnie, that two of their friends made appointments with Dr. Ott-Young to discuss breast reduction. The sisters’ rapid recovery also encouraged those who supported them along their journeys. “People who knew about our situation didn’t expect us to be up and about so quickly,” added Brenda.

Not surprisingly, Bonnie and Brenda are also very vocal about the care they received from Bridgeport Hospital’s Norma F. Pfriem Cancer Center, Dr. Pronovost, Dr. Ott- Young and staff. “We couldn’t have made a better choice,” said Bonnie. “The level of care was wonderful.”

“No matter what your decision, they made you feel it was the right one,” added Brenda. “Everyone was like family, especially the nurses. We still text each other!”

Revisiting the steps of their journeys and the lessons learned along the way, Brenda and Bonnie have a message they want every woman to hear, especially those with a family history of breast or ovarian cancer: “Be proactive. And if you’re given the option of genetic testing, do it,” said Bonnie.

Genetic counseling: What’s involved

Genetic counseling services at the Norma F. Pfriem Cancer Institute, 5520 Park Avenue, Trumbull, are designed to help individuals understand the risk of developing cancer that they and their family face.

The center’s certified genetic counselor, partnering with the Yale Cancer Center, can help determine the right testing and prevention measures.

Individuals may be a candidate for genetic counseling if they have a personal and/or family history of cancer, including colorectal, breast, ovarian and melanoma. Testing at the Norma F. Pfriem Cancer Institute generally involves three one-hour visits.

Most insurance companies cover at least part of genetic counseling charges. Individuals should contact their insurance provider for precertification before their first visit. The Yale Genetic Counseling Program does not require a referral, but the insurance company may.

For more information about the Yale Genetic Counseling Program in Trumbull or to make an appointment, please call 203-764-8400.