UAB genetics and breast cancer experts respond to Angelina Jolie's preventive mastectomy

Hollywood actress Angelina Jolie, who has one of the genes linked to breast cancer, revealed that she underwent a double mastectomy earlier this year to prevent following in the footsteps of her mother and succumbing to breast cancer. University of Alabama at Birmingham (UAB) genetics and breast cancer experts are weighing in.

BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors, and according to the National Cancer Institute, mutation of these genes has been linked to hereditary breast and ovarian cancer.

Lynn Holt, M.S., genetics counselor and director of the UAB Genetics Counseling Program in the School of Health Professions, said genetic testing to find BRCA1 or BRCA2 is not helpful for everyone.

"In order to identify those that would benefit the most, a patient should have a complete evaluation of their family history and personal history to identify risk factors for inherited breast and ovarian cancer that are associated with the BRCA1 and BRCA2 genes," Holt said. "Ideally, this should be done by a genetic counselor or medical professional with training in inherited cancer."

Though not for everyone, Holt said she agrees with Angelina Jolie's proactive stance about addressing her risks.

"Knowing your risk can give you access to many different options. Anyone that is concerned about a personal or family history of breast or ovarian cancer should talk to their doctor about being evaluated for risk and the potential benefits of genetic testing to determine if they do have one of these genes. This information can be used to ultimately determine a personalized health plan that will address needs."

Genetic predisposition for breast cancer is rare and affects less than 10 percent of all women diagnosed with breast cancer, according to Helen Krontiras, M.D., UAB breast surgeon and co-director of the UAB Breast Health Center. However, Krontiras said, for women who do carry the gene, the risk is quite significant, up to an 85 percent lifetime risk of developing breast cancer.

"Women who are diagnosed with the BRCA1 or BRCA2 gene should be counseled about their options for managing this risk," Krontiras said. "This can include surveillance, chemoprevention and prophylactic surgery of breasts and/or the ovary. A breast cancer specialist will be able to develop a screening and prevention strategy, optimizing outcomes and patient preference for each individual patient. It is not always a one-size-fits-all approach."

Both experts agree that knowing family history is of the utmost importance - on both the maternal and paternal sides.