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Breast Cancer Genetic Risk Assessment

Beth Israel Deaconess Medical Center can work with you to determine your risk of developing breast cancer.

Role of Genetics in the Development of Breast Cancer

BRCA Genes

In 10 percent of breast cancer cases, the cancer is caused by an abnormal gene mutation from one of the parents. The most common genes that cause breast cancer are known as BRCA1 and BRCA2. In families where one parent carries one of the genes, there is often at least one woman — most often, more — who has developed breast cancer before she turned 50. Another clue that a BRCA1 or BRCA2 abnormality exists is the presences of ovarian cancer, male breast cancer, or breast cancer in both breasts.

The mutated gene can be found in any family with the appropriate cancer history, although these mutations are more prevalent in Jewish families. In Jewish families, genetic testing should be considered for any woman who has two close relatives diagnosed with breast cancer before age 65, or any instance of ovarian cancer.

If any of these scenarios seem to fit you and your family, consider asking your doctor to refer you to the Cancer Risk Evaluation Program at BIDMC, where you will meet with a genetic counselor so that you can figure out whether genetic testing is right for you.


A study published in the journal Nature Genetics in February 2007 found that women who have a gene called CASP8 are 10 percent less likely than other women to develop breast cancer.

Genetic Testing

Genetic testing is accomplished through a blood test and lots of detailed analysis. Before the blood sample is sent to the lab, you'll meet with a genetic counselor to make sure that genetic testing is right for you and to decide whether your insurance company will pay for this expensive test. Once the blood sample is sent for testing, it can take five weeks or so to receive the results.

Considering Genetic Testing

Identifying whether you have an abnormal gene could help predict what other cancers you might be at risk for, such as ovarian cancer. Knowing this information allows your health care providers to recommend strategies to prevent or detect those cancers at an earlier stage. It can also help you counsel your relatives about their risks of developing cancer.

And, if you've been diagnosed with breast cancer, knowing your genetic status might alter the treatment plan for you.

Meeting with a Genetic Counselor

If you make an appointment with a genetic counselor, it does not mean you have committed to having a genetic test. Rather, the meeting, which lasts about an hour and a half, is an informational session to help you decide whether testing is appropriate.

It's best if you can determine your family history as accurately as possible before the meeting, including what cancers occurred in which relatives and how old the relatives were when they were diagnosed.

If you decide to have the genetic test, you can either begin at that session or you can begin at a later date.

If you are interested in arranging an appointment in our Cancer Genetics and Prevention Program, you can call us at 617-667-1905. We will gladly arrange a time for you to come in and meet with one of our genetic counselors.

Insurance Discrimination

There is excellent legislation in Massachusetts (and many other states) that protects you against discrimination in health insurance coverage, employment, and bars-genetic-discrimination other areas. There has not been one documented case against BRCA1 or BRCA2 carriers. In 2008, Congress passed the which prohibits genetic discrimination.

Contact Information

Breast Cancer Risk Assessment
Beth Israel Deaconess Medical Center
Boston, MA 02215