Chances Are

She triumphed over breast cancer 12 years ago, but Ivis Febus-Sampayo stared it in the face again this January when a genetics test revealed she carried a specific gene mutation, which put her chances of developing a cancerous lump in her breast at a roughly estimated, and frightening, 45 percent.

A 50-year-old wife and mother of two boys, Febus-Sampayo took aggressive action against the deadly disease. She went under the knife and preemptively had her ovaries removed, narrowing the likelihood of a malignant growth in her breast. With early detection of tumors directly linked to cancer survival rates, Febus-Sampayo has regular mammograms and oncologist visits. Additionally, she has an annual breast MRI (magnetic resonance imaging), recommended only for high-risk patients. While MRIs have been shown to find tumors when they are smaller and easier to treat, misreading the findings can result in false alarms and numerous painful biopsies.

Credit the field of genetics with giving Febus-Sampayo the heads-up about her genetic risks. Today, women are only a blood test away from knowing their susceptibility to breast cancer, giving those who test positive for key gene mutations the time to weigh their options. Some women choose to attack the disease, no holds barred, by having their ovaries or breasts removed. Others opt for preemptive drug treatments. Almost all step up the pace and intensity of their regular exams.

The two most famous inherited genes linked to breast, as well as ovarian and prostate, cancer are BRCA1 and BRCA2, located on the 17th and the 13th chromosomes respectively. The mutation, most prevalent among Eastern European Ashkenazi Jews, the Dutch, and Icelandic people, accounts for the vast majority of breast cancer cases chalked up to genetic mutations. (Only 5 to 10 percent of all breast cancer is pinned solely on the genes.) While possessing the mutation does not guarantee a person will develop tumors—individual factors, like obesity and lack of exercise, play a role—it does make it much more likely that the carrier will be one of the 211,240 new breast cancer cases the American Cancer Society expects to be diagnosed in 2005.

Physically speaking, genetic testing is as easy as giving blood. But the emotional implications seem heavy as stone. Many fear that a positive result will cost them, or their family members, health insurance or jobs. If insurance doesn’t cover the testing, costs can run up to $3,000, said Carolyn Farrell, director of clinical genetics services at Roswell Park Cancer Institute in Buffalo, New York. Others fear the reaction of relatives. “Some people are afraid that if they have the mutation, their children will have it,” Farrell said. “They feel guilty.” As a nurse practitioner and genetic counselor, Farrell’s job includes accessing a patient’s cancer risk via family history and helping patients tackle the psychological issues of the testing. “If their siblings have cancer and they don’t have a mutation, they feel guilty and fear their family’s anger,” she added.

Febus-Sampayo agonized over being tested for two years before taking the plunge. This despite the fact that she works as director of LatinaSHARE, the Hispanic-oriented branch of SHARE: Self-Help for Women with Breast or Ovarian Cancer. Not only was she concerned about her family’s health insurance coverage, but she found it difficult to broach the subject of her results—that she was BRCA2-positive—with her female relatives. She ended up telling her two sisters, giving them her genetic counselor’s contact information. She never told her mother, a known worrier.

In addition to leading the way in cancer prevention, genetics has opened doors to cancer treatment. The latest wonder-drug is Herceptin, which targets a genetic defect in certain cancer cells, and is highly effective when used with chemotherapy. “That is probably the most significant advance in systemic therapy in 10 years,” said Dr. Deborah Axelrod, director of clinical breast services and surgery at New York University Clinical Cancer Center. While she is excited about Herceptin, Axelrod also sees it as a launching pad for other therapies targeting even greater numbers of cancer cells.

Axelrod believes genetics will give health professionals more insight into each patient’s illness, allowing doctors to fine-tune treatments for individuals. “We’re going to try to predict the biology of breast cancer,” she said.