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BRCAs Decoded

Monday, October 28, 2013
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Understanding Genetic Testing for Breast and Ovarian Cancer with Adele Schneider, MD, FACMG, Director, Clinical Genetics, Medical Director, Victor Center for Jewish Genetic Diseases, Albert Einstein Medical Center

Who should receive genetic testing for the BRCA-1 and BRCA-2 genetic mutations?

Testing is recommended for Ashkenazi Jews, males and females, whose sisters, mothers and maternal or paternal grandmothers and aunts had breast or ovarian cancer, explains Dr. Adele Schneider, director of clinical genetics and medical director of Einstein Medical Center’s Victor Center for Jewish Genetic Diseases.

Other factors: family members who had breast cancer twice, had both breast and ovarian cancer,  or who had breast cancer before the age of 50. People with that family history may qualify for genetic testing, especially if they are Ashkenazi Jewish. “In the general population, less than 1 percent of people carry the BRCA mutations, but one in 40 Ashkenazi Jews carry a mutation in one of these genes,” Schneider says.

What are BRCA genes?

Schneider explains that there are actually three mutations common in the Jewish population: two in the BRCA-1 gene, one in BRCA-2. Discovered in the early 1990s, the BRCA (which stands for BReast CAncer) genes are tumor suppressors. They stop cancer from developing by repairing damage to cells. But mutated BRCA genes cannot perform that function, increasing the risk that cancer will grow unchecked. According to the Center for Jewish Genetics, a woman with the BRCA-1 or BRCA-2 mutations has an 85 percent lifetime risk of developing breast cancer and a 20-54 percent lifetime risk of developing ovarian cancer.

If BRCA mutations are only one cause of breast and ovarian cancer – and their presence indicates a possibility but not a certainty that the disease will develop – why bother to get tested?

“So that we can increase your surveillance, catch cancer as soon as possible and fight it better,” Schneider answers. Women who carry the BRCA mutations can receive mammograms twice a year and make other proactive choices about their health. “Knowledge isn’t just power,” Schneider says, “it’s control.”

For more on risk factors and surveillance, read “Breast Cancer Risk Factors & Screening What Jewish Women – And Men – Need To Know.” www.jewishexponent.com/blog/breast-cancer-risk-factors-screening

What is the process of getting tested for the BRCA mutations?

Patients call Einstein’s genetics department to make an appointment with the genetic counselor who specializes in cancer genetics. In advance of that appointment, patients receive a questionnaire. At the center, they meet with the genetic counselor to review the questionnaire, their medical history and that of their family. Counselors work with patients to draw a family tree, called a pedigree. “We also make a psychological-social assessment of the patient and her family and how knowledge of increased risk will be handled by her and her family,” Schneider says.

The genetic counselor works with Dr. Lisa Jablon, director of the breast program at Einstein’s Marion Louise Saltzman Women's Center, who also consults with the patient. “We want Dr. Jablon to tell the patient what her options will be before she decides to get tested,” Schneider explains. “We want our patients to have all of the information possible to help them make an educated decision."

Patients do not have to receive testing at that first appointment. They can return at their convenience, when they are ready. Results are returned within 2-4 weeks.

Are results of genetic testing kept private?

Patients can control which, if any, of their doctors receive the results. If a health insurance company pays for the test, it can access the results, Schneider explains. And there are no protections against life insurance companies using genetic information in calculating costs of insurance. But neither health insurance companies nor employers can use the results of a genetic test to treat patients unfairly. The Genetic Information Nondiscrimination Act of 2008 and the Affordable Care Act of 2010 make it illegal to consider genetics as a preexisting condition, Schneider explains. “I hope this makes people feel more comfortable about assessing their risk through genetic testing,” she says, “because the information saves lives.”

For more information about Einstein’s advances in breast cancer treatment, go to: http://www.jewishexponent.com/blog/breast-cancer-breakthrough and http://www.jewishexponent.com/blog/straight-talk-on-mammograms

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