What Is BRCA?

BRCA1 and BRCA2 Genes: What You Need to Know

If you’ve found out that you have a BRCA gene change, you may be feeling overwhelmed. Everyone has BRCA1 and BRCA2 genes. Some people have changes, called mutations, in these genes. Individuals of Ashkenazi Jewish descent have a one-in-forty chance of having an inherited BRCA gene mutation that puts them at a much higher risk of developing certain hereditary cancers that can often be prevented if detected early.

The Jewish-Cancer Connection

Ashkenazi Jews are largely unaware that their risk of inheriting a BRCA gene mutation is ten times that of the general population. Jews of central and eastern European descent have a one in forty chance of having a mutation in their BRCA1 or BRCA2 gene that puts them at much higher risk than the general population of developing ovarian cancer, breast cancer (male or female) and prostate cancer.

People who know they are BRCA positive can reduce their risk of developing BRCA cancer and detect it early through enhanced screening, risk-reducing surgery, and/or chemoprevention.

How Can I Manage My Risk?

Understanding and managing your cancer risk can be overwhelming. If you or your loved one has a known BRCA1 or BRCA2 mutation, managing the risk may include: enhanced screening, prophylactic (risk-reducing) surgery, and chemoprevention. You and your doctor will decide what works best for you.

Enhanced screening

Some women who test positive for BRCA1 and BRCA2 mutations may choose to start cancer screening at younger ages than the general population or to have more frequent screening. For example, some experts recommend that women who carry a harmful BRCA1 or BRCA2 mutation undergo clinical breast examinations beginning at age 25 to 35 years. And some expert groups recommend that women who carry such a mutation have a mammogram every year, beginning at age 25 to 35 years.

How is breast cancer screening done for male BRCA carriers? Starting at age 35, male BRCA carriers should begin breast self-exams and undergo clinical breast exams with a physician every 12 months. A mammogram may be recommended on an individual basis. Mammograms are conducted in the same manner in men as they are in women. Source: Basser Center for BRCA

Prophylactic (Risk-reducing) Surgery.

Prophylactic surgery involves removing as much of the “at-risk” tissue as possible. Women may choose to have both breasts removed (bilateral prophylactic mastectomy) to reduce their risk of breast cancer. Surgery to remove a woman’s ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) can help reduce her risk of ovarian cancer. Removing the ovaries also reduces the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some types of breast cancer.

Chemoprevention

Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of or delay the recurrence of, cancer. Although two chemopreventive drugs (tamoxifen and raloxifene) have been approved by the U.S. Food and Drug Administration (FDA) to reduce the risk of breast cancer in women at increased risk, the role of these drugs in women with harmful BRCA1 or BRCA2 mutations is not yet clear.

Data from three studies suggest that tamoxifen may be able to help lower the risk of breast cancer in BRCA1 and BRCA2 mutation carriers, including the risk of cancer in the opposite breast among women previously diagnosed with breast cancer. Studies have not examined the effectiveness of raloxifene in BRCA1 and BRCA2 mutation carriers specifically.

Oral contraceptives (birth control pills) are thought to reduce the risk of ovarian cancer by about 50 percent both in the general population and in women with harmful BRCA1 or BRCA2 mutations.2

Misconceptions

“I was tested for mutations in my BRCA1 and BRCA2 gene when I was pregnant because I am an Ashkenazi Jew.”

Fact: The blood test that many Ashkenazi Jewish women have when pregnant is called the “Ashkenazi Jewish panel.” The test (a blood draw) is used by Ashkenazi Jewish individuals who wish to know their carrier status and/or risk of having a child with disorders such as Gaucher disease, Cystic fibrosis and Tay-Sachs disease that commonly occur in Ashkenazi Jewish individuals. The Ashkenazi Jewish panel is not the same test used to detect potentially harmful mutations in the BRCA1 and BRCA2 genes.

“I may have a BRCA mutation, but it doesn’t impact me because men cannot get breast cancer.”

Fact: Though breast cancer is most commonly thought of as a woman’s disease, male breast cancer does occur. Male breast cancer is a rare cancer that forms in the breast tissue of men. A man with a BRCA2 gene mutation has about a 6-10% risk of developing breast cancer. In comparison, men in the general population have a less than 1% chance of developing breast cancer. (Men who have a BRCA1 gene mutation may have a slightly increased risk for breast cancer, although this risk is not well-defined.)

“My family’s history of cancer is on my father’s side, so my cancer risk is less than if the cancer were on my mother’s side.”

Fact: If you are an Ashkenazi Jew with a family history of cancer, your risk of inheriting a potentially harmful mutation in your BRCA1 or BRCA2 gene is the same whether the history of cancer is on your mother’s side or father’s side of the family.

“My mother was tested and learned that she does not have a mutation in her BRCA1 or BRCA2 gene, so there’s no way I could have inherited a potentially harmful BRCA1 or BRCA2 gene mutation.”

Fact: BRCA1 and BRCA2 mutations can be inherited from an individual’s mother or father.

“If I am screened and find out that I have a BRCA1 or BRCA2 mutation, I will definitely develop cancer.”

Fact: People inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in the BRCA1 or BRCA2 genes will ultimately develop cancer.

“If I discover I have a BRCA1 or BRCA2 mutation, my biological child will definitely inherit the mutation.”

Fact: Both men and women who have a BRCA1 or BRCA2 gene mutation have a 50% chance of passing it onto their child.

Resources

Oneinforty is part of a network of organizations meeting the unique needs of individuals and families facing their risk of BRCA-related hereditary cancers. These organizations include:

Basser Center for BRCA

The Basser Center for BRCA at Penn Medicine’s Abramson Cancer Center is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers. Devoted to advancing care for people affected by BRCA gene mutations, the Basser Center’s unique model provides funding for collaborative research, education, and outreach programs around the world.

BRCA Sisterhood Facebook Group

The BRCA Sisterhood Facebook group is an online peer support community that is nearly 9,000 women strong.

FORCE

The mission of FORCE (Facing Our Risk of Cancer Empowered) is to improve the lives of all people and families affected by hereditary breast and ovarian cancer.

Sharsheret

Sharsheret in a national nonprofit organization that supports Jewish women and families facing BRCA gene mutations, breast or ovarian cancer at every stage—before, during, and after diagnosis.