What are BRCA1 and BRCA2 gene mutations?

Jill Stopfer, MS, is a certified genetic counselor at the Mariann and Robert MacDonald Women’s Cancer Risk Evaluation Center at Penn’s Abramson Cancer Center. Here she explains genetic risk due to the BRCA1 or BRCA2 genes.

Women with breast cancer or ovarian cancer may want to ask their physicians if their cancer has a genetic link.

The BRCA1 and BRCA2 genes, breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, are genes with several roles. One important role is to repair certain types of DNA errors that may occur each time a cell makes a copy of itself. Without a gene mutation, functional BRCA1 and BRCA2 genes help ensure the stability of the cell’s genetic material, or DNA, and help prevent uncontrolled cell growth. Mutations of these genes have been linked to an increased genetic risk for multiple forms of cancer, but most notably breast and ovarian cancer.

The lifetime risk of developing breast and/or ovarian cancer is greatly increased for women who inherit a harmful mutation in BRCA1 or BRCA2. These women have an increased risk of developing breast and/or ovarian cancer at an earlier than average age and may have multiple, close family members who have been diagnosed with these conditions.

Mutations in BRCA1 or BRCA2 may also increase the risk for pancreatic cancer and melanoma in both women and men. Men also have a higher chance to develop an earlier onset prostate cancer if a BRCA2 gene mutation is present. Men with BRCA1 or BRCA2 mutations also have an increased risk of male breast cancer.

Should you get tested for a BRCA gene mutation?

In a family with a history of breast and/or ovarian cancer, the first step may be to test a family member who has had breast or ovarian cancer. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members can be tested to see if they also have the mutation.

The Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center provides genetic counseling to help people identify their genetic risk of breast cancer, ovarian cancer and other cancers.

The center assists patients with cancer as well as those individuals who may be at an increased risk for cancer.

The program is designed to:

• Help people understand their genetic risk of breast cancer, ovarian cancer and other cancers.
• Obtain and assess detailed family history information for possible inherited cancer conditions.
• Provide expert genetic counseling and the option of genetic testing.
• Arrange genetic testing and provide consultation regarding results.
• Provide a clinical breast examination.
• Provide tailored medical recommendations.
• Review outside genetic testing results and make recommendations for follow-up.
• Coordinate screening and long-term, follow-up care for those with a known inherited genetic risk for cancer.
• Review medical history and lifestyle risk factors.
• Provide a written summary of a genetic consultation.
• Evaluate eligibility for participation in research studies.

The Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center also provides information for those who have been diagnosed with cancer and are interested in learning about the role of genetics in their disease.

Some people are interested in obtaining this information for the benefit of their siblings, children and grandchildren. The center also holds education and support programs periodically throughout the year for individuals at high risk for developing cancer.

*Some of this information was adapted from the National Cancer Institute.

Watch the Abramson Cancer Center’s Focus On Your Risk of Breast and Ovarian Cancer Conference to learn more about cancer genetics and risk assessment.

The Basser Research Center to Focus on BRCA1 and BRCA2

The Basser Research Center — BRC for BRCA — supports research on the BRCA1 and BRCA2 genes, harmful forms of which are linked to greatly increased risks of developing breast and ovarian cancer. The Center is named in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44.

The Basser Research Center was established with a $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray.

Emphasizing outreach, prevention, early detection, treatment and survivorship, the Basser Research Center will contribute to all stages of research and clinical care related to BRCA-related cancers.

Learn more about the Basser Research Center.