The Breast Cancer Gene: uncovered

Your mother's laugh, Grandma's eyes and your husband's smile these aren't the only types of traits that can be inherited. In some families, a heightened risk for disease is passed down from generation to generation. While a simple blood test can uncover genetic risks, the decision to have it done is a complex and personal one.

When Crystal Polk told her children she had breast cancer, her 13-year-old daughter asked, "Will I get it?" She answered, "Honey, I don't know."

This is the million-dollar question for the five to ten percent of women with breast cancer who have inherited a predisposition to the disease. Ms. Polk is one of them.

As in Crystal's case, altered genes, called BRCA1 and BRCA2, often play a role in hereditary breast cancer. While not all those with altered genes will get cancer, they can still pass the mutation on to their children. Yet, not all children of those with a gene mutation will inherit the alteration.

Family ties

People with gene mutations often have multiple family members who have been diagnosed with breast cancer, and many develop the disease at a young age.

Crystal's family tree fits the profile perfectly. Her mother succumbed to breast cancer at age 43. Her older sister was diagnosed with it at age 35. Her fraternal grandmother was diagnosed postmenopausal, and two cousins were diagnosed premenopausal. In February of 2008, Crystal joined the ranks.

"Doctors had mentioned genetic testing for a year, but my attitude was ‘what am I going to do with the information?'"says Crystal. "Once I was diagnosed, I thought the testing could offer some benefit for my daughter."

Who should be tested?

The American Cancer Society suggests genetic evaluation for women who meet one of the following criteria:

• Two first-degree relatives (mother, sisters, daughters) with breast cancer, one of whom was diagnosed at age 50 or younger
• Three or more first- or second-degree relatives (grandmothers, aunts, cousins) with breast cancer
• Both breast and ovarian cancer among a first- and second-degree relative
• A first-degree relative with cancer in both breasts
• Two or more first- or second-degree relatives with ovarian cancer
• A male relative with breast cancer

Talking it through

Genetic counseling is an essential first step for anyone considering gene testing. Crystal turned to Christine Weaver, MD, PhD, a certified genetic counselor with Mills Breast Cancer Institute*, to help her consider options, assess risks and cope with results. Ultimately, Crystal opted to have the test.

Tears and fears

The news evoked tears, questions and fears. Crystal tested positive for BRCA1 gene alteration, which meant she was at risk for breast cancer recurrence and ovarian cancer. "The results were stunning. I felt like I had opened Pandora's box," she says. "What do I do with that information? Who do I tell?

I kept thinking, ‘What have I bequeathed to my daughter?'"

Sharing results

Information gained from genetic tests can take an emotional toll on the entire family - and lead to false reassurance or needless worry. Crystal has decided not to share test results with her younger sister.

"She knew I was having the test, so if she wants to know, she'll ask," says Polk. "I don't want to feel like I'm bringing my cancer into her life."

Neither has Crystal told her daughter - and will not encourage her to have genetic testing.

"What would she do differently now?" Polk asks. "When she gets older, she can make her own choice."

A proactive plan

Today, Crystal has completed cancer treatment: a lumpectomy, four rounds of chemo and seven weeks of radiation. Because she didn't tolerate chemo well, Crystal is seriously considering having preventative mastectomy and removal of ovaries to reduce her cancer risks.

"Genetic testing was the right thing for me to do. I feel I have choices that I could not have made without this information. I have some say in my health and what happens to me," she says. "But this is such an individual choice. I still have some reservations about genetic testing overall and what we do with that information."

Hope for the future

Some day it may be possible to fix or manipulate the genes that increase one's risk for cancer. Until then, knowledge gained from testing gives some patients the power to make informed decisions.

"I am confident I will have a longer life taking these measures," says Crystal. "I didn't choose to get cancer. But I can choose to be proactive about my health."