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Frequently Asked Questions About BRCA

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are two genes that belong to a class of genes known as tumor suppressors. Mutations (changes) in these genes have been linked to a higher risk of developing breast cancer and ovarian cancer.

If I test positive for a BRCA1 or BRCA2 mutation, what does that mean for my risk of breast or ovarian cancer?

A woman's lifetime risk of developing breast or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Cancer is also more likely to develop at an earlier age. Women with a BRCA1 or BRCA2 mutation have a 55-85% lifetime risk of developing breast cancer in their lifetime (compared to 12.5% in the general population) and a 15-40% chance of developing ovarian cancer in their lifetime (compared to 1.4% in the general population).

Should I be tested for BRCA mutations?

A genetic counselor can help you understand if you're likely to have an inherited susceptibility to breast and/or ovarian cancer. Those most appropriate for genetic testing have:

  • High numbers of family members with cancer diagnoses throughout several generations, either maternal or paternal
  • Family member diagnosed with cancer before age 50
  • Family members who have been diagnosed with multiple cancers (for example, breast and ovarian)
  • Male breast cancers, or clusterings of other cancers such as colon, prostate, stomach or pancreatic

Women who have none of these family history patterns have a low probability of having a harmful BRCA1 or BRCA2 mutation.

How does genetic testing work?

A genetic test for the BRCA mutations involves a simple blood draw or a saliva samplethat can be done in your doctor's office. The blood or saliva sample is then sent to a special laboratory for analysis. Results are returned several weeks later. Genetic counseling is recommended before and after testing.

How much does BRCA1 and BRCA2 mutation testing cost?

The cost for BRCA1 and BRCA2 mutation testing usually ranges from several hundred to several thousand dollars. Insurance policies vary as to whether the cost of testing is covered. People who are considering BRCA1 and BRCA2 mutation testing may want to find out about their insurance company's policies regarding genetic tests.

What do the test results mean?

A positive test for a deleterious/pathogenic (harmful) gene mutation/variant (change) means the person has inherited a genetic mutation on the BRCA1 or BRCA2 gene. This means the person has a higher lifetime risk of developing breast or ovarian cancer. It does not mean that person WILL develop cancer.

A negative test means there is not an inherited genetic mutation in the BRCA genes. This does not mean the person will NOT develop cancer. Not all genes involved with cancer are known, and the majority of cancers are sporadic, or random.

There is a third possible result, a mutation variant of uncertain/unknown significance (also called a variant of uncertain significance or VUS). This means that the a change in BRCA1 or BRCA2 gene is not normalhas been identified, but it is not clear if the specific gene mutation is associated with a higher risk of breast and ovarian cancer or if it is a benign change in the gene like having brown eyes or blue eyes. Approximately 7% of test results come back as VUS. It is very important to discuss these (and all) BRCA test results with a health professional who is knowledgeable about BRCA testing.

What are the options if I test positive?

You have several options to manage your cancer risk.

Surveillance: Surveillance: Begin cancer screenings at an earlier age (per family history or at age 25), including yearly mammography and breast MRI. Clinical breast exams every six months starting at age 18 and practicing breast self awareness.

Surgery: Women typically have their ovaries and fallopian tubes removed, which reduces the risk of both breast and ovarian cancer and fallopian tube cancer. Timing of ovarian and fallopian tube removal is important, and should take into consideration both family planning and the usual age at which ovarian cancer develops in those with BRCA gene mutations. Women may also choose to have their breasts removed.consider prophylactic (risk reducing) bilateral mastectomy to reduce their risk of developing breast cancer.

Medication: Three drugs have been shown to decrease the risk of breast cancer: tamoxifen and raloxifene, and exemestane. Both are taken as a daily pill.

Risk avoidance: Certain lifestyle behaviors have been linked to cancer risk, including eating a diet that is high in fruits and vegetablesdiet, limiting alcohol consumption, tobacco cessation, and increasing physical activity.

Talk to your doctor about the options that are best for you.

If I test positive for a BRCA mutation, can I be discriminated against?

In 1996, the US Congress passed the Health Insurance Portability and Accountability Act (HIPAA), which included protection against genetic testing information being used in a discriminatory manner towards individuals in a group health plan. In 2008, the U.S. Congress passed another law, theGenetic Information Nondiscrimination Act, or GINA, to protect citizens against health insurance or employment discrimination based on their genetic information. The law says health insurance companies cannot raise premiums or claim a pre-existing condition based only on genetic testing results. Likewise, employers cannot make hiring, firing or salary decisions based on a person's genetic information.

What other breast cancer genetics informational resources are available?

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