Genetic Testing: Looking for Answers

Organization: Service: Story Topics:
Cancer

Andrea Glasser’s vision of the future changed dramatically. After a routine mammogram at the MemorialCare Breast Center, the 44-year-old veterinarian was stunned to learn that she had a suspicious growth in her right breast.

Several days later, a biopsy confirmed her worst fears: she had breast cancer. Shortly afterward, the Los Alamitos resident had surgery to remove her right breast.

A few days later, Andrea’s case was reviewed by a multidisciplinary team of specialists at the hospital’s weekly breast cancer treatment planning conference. After reviewing the details, the group recommended genetic testing. “They noted that Andrea had a diagnosis of premenopausal breast cancer and was also of Ashkenazi Jewish descent,” explains Carey Cullinane, M.D., a breast surgeon and genetic specialist at the MemorialCare Breast Center at Long Beach Memorial. In some populations, certain genetic syndromes are known to be more common. For example, mutations in the BRCA genes are seen in approximately one in 40 individuals of Ashkenazi Jewish heritage.

“The lifetime risk of breast cancer for women with BRCA1 and BRCA2 mutations can be as high as 87 percent, compared to 12 percent in the general population,” says Dr. Cullinane. “Furthermore, the lifetime risk of ovarian cancer ranges between 25 and 44 percent, in stark contrast to the average woman’s risk, which is less than two percent. This, combined with Andrea’s premenopausal breast cancer, caused us to investigate whether she might be at risk for other cancers.”

“I’m one of these people who believes that knowledge is power,” says Andrea, who immediately accepted the recommendation for genetic testing. “I needed to know whether I had a mutation in either the BRCA1 or BRCA2 gene so I could decide what treatment would be optimal for me."

“People at high risk for specific inherited diseases are faced with ongoing uncertainties about the future for themselves and their children,” says Dr. Cullinane. “A negative genetic test can be an enormous relief for them. For those who test positive, there are also important benefits, including the chance to make choices that reduce the risk.”

Three weeks after having her blood drawn to obtain a DNA sample, Andrea met with Dr. Cullinane to discuss the results.

“I was shocked to learn that I tested positive for a BRCA1 mutation,” says Andrea, who attended the meeting with her husband. Dr. Cullinane proposed two possible courses of action.

The first was to follow a program of enhanced surveillance for breast and ovarian cancer. The second was to undergo prophylactic surgery—removal of the fallopian tubes, ovaries and remaining breast. A recent study of preventive mastectomy in women with BRCA1 and BRCA2 mutations showed that this option reduced the risk of future cancer by 95 percent in most instances, while removal of the tubes and ovaries reduced the risk of these two cancers by 90 percent. After hearing her odds, Andrea elected to have preventive surgery.

“Without genetic testing, I wouldn’t have considered taking this step,” says Andrea. “It’s comforting to know I’ve done everything humanly possible to prevent getting cancer again.”

Each year, the Cancer Risk and Prevention Program at Long Beach Memorial helps hundreds of patients determine their risk for diseases that can be inherited, including colon, uterine, breast and ovarian cancer.

“People who test positive, but don’t have the disease yet, can benefit from aggressive screening programs, proactive elective surgery and clinical trials,” says Dr. Cullinane.

Featured physician:

Carey A. Cullinane, MD

Medical Director Cancer Risk & Prevention, MemorialCare Cancer Institute at Long Beach Memorial
Specialties:
  • Breast Genetic Counseling, General Surgery