Genetic counseling is a window to risk

Risk-reducing mastectomies an option for women who have the potential for developing breast cancer

Oct. 31, 2009, DANVILLE – Now that genetic counseling can identify families at risk and genetic tests can be utilized to detect an inherited risk of breast cancer, some women who test positive for the breast cancer genes are making decisions to undergo preventative mastectomies that may save their lives.

Last year actress Christina Applegate was diagnosed with breast cancer. She underwent two lumpectomies to remove cancerous tissue. But when genetic testing revealed a predisposition to breast cancer, she decided to undergo a preventative - or prophylactic - double mastectomy to prevent a life-threatening reoccurrence.

Mutations to BRCA1 and BRCA 2 genes may account for up to 10 percent of all breast cancers. In their normal form, BRCA1 and BRCA2 genes prevent breast cancer by producing a protein that stops cells from growing out of control. As long as one gene in each pair is working properly, breast cells function normally. But if both copies of a breast gene are abnormal, breast cells can grow out of control and become breast cancer. Women with breast cancer gene abnormalities are also at increased risk for ovarian cancer.

Beverly Tenenholz, MS, CGC, a certified genetic counselor at Geisinger Health System, reports that the best candidates for genetic testing are those who have multiple blood relatives with the same or related (like breast and ovarian) cancers and a personal and/or family history of early onset (age 50 or younger) cancers.

Tenenholz explained that the average American woman who does not have an inherited breast cancer gene abnormality has a 12 percent risk of developing breast cancer over a 90-year lifespan. In contrast, women with an abnormal BRCA1 or BRCA2 gene have about an 85 percent risk of being diagnosed with breast cancer in their lifetime.

“When genetic testing determines a woman is at high risk for breast cancer, she has options including risk-reduction medications such as Tamoxifen or Raloxifine or in cases of extreme risk, a preventative mastectomy,” said Albert Bernath, M.D., medical oncologist and medical director of the Familial Cancer Genetic Clinic. “She can also be diligent in breast self-exams, regular mammograms, breast MRI, and other diagnostic testing so that any suspicious lumps are detected early.”

A preventative mastectomy can reduce a women’s risk of reoccurring breast cancer by at least 90 percent.

“In patients with extreme risk factors for breast cancer, this is a significant reduction. However this approach is not for everyone, and careful testing and counseling are necessary before a woman can make an informed decision,” said Dr. Bernath.

About Geisinger Health System
Founded in 1915, Geisinger Health System (Danville, PA) is one of the nation’s largest integrated health services organizations.  Serving more than two million residents throughout central and northeastern Pennsylvania, the physician-led organization is at the forefront of the country's rapidly emerging electronic health records movement. Geisinger is comprised of two medical center campuses, three hospitals, a 740-member group practice, a not-for-profit health insurance company and the Henry Hood Center for Health Research—dedicated to creating innovative new models for patient care, satisfaction and clinical outcomes. For more information, visit www.geisinger.org.