What you need to know about BRCA gene testing

What is BRCA gene testing?
Everyone has BRCA genes that produce tumor-suppressing proteins. But risky BRCA1 and BRCA2 gene mutations leave a person more susceptible to cancers, including breast and ovarian cancers. BRCA testing is used to determine whether a person has such a mutation, which can be inherited from either parent. Each child of a parent who has a mutation in one of these genes has a 50 percent chance of inheriting the mutation.

What does the test entail?
BRCA gene mutations are detectable through DNA from a blood or saliva sample. It usually takes about a month to get results once your sample is sent to a lab for analysis.

What does a positive result mean?
A woman's lifetime risk of developing cancer is “greatly increased,” if she has a harmful BRCA mutation, according to the National Institutes of Health. About 12 percent of women will develop breast cancer at some point compared with up to 65 percent of women who inherit a harmful BRCA1 mutation. Other cancers are linked to mutations in BRCA1 and BRCA2, including fallopian tube, abdominal and pancreatic cancers. Men with harmful BRCA gene mutations face higher risk of prostate cancer.

How common are high-risk BRCA gene mutations?
The likelihood of carrying a BRCA gene mutation is extremely low for people with no family history of breast or ovarian cancer. Only about 10 percent of all breast cancers and 15 percent of all ovarian cancers can be traced back to inherited genetic mutations.

Who should take the test?
Because BRCA gene mutations are relatively rare, many doctors agree only those who have specific family patterns of cancer should consider the test. Such patterns include having multiple family members who have been diagnosed with breast or ovarian cancer, especially at a young age; cases of male breast cancer; and two or more cancers in one family member.

For anyone thinking about such testing, experts strongly recommend genetic counseling by someone who is experienced in cancer genetics. Counseling can help assess the need for testing in the first place, as well as facilitate discussion about what kinds of decisions a person faces once she gets her results.

What kinds of decisions should you be prepared to make?
A person who finds out she has a BRCA gene mutation faces some difficult decisions. Some women choose enhanced cancer screening, beginning with regular mammograms in their 20s, for example. Others choose risk-reducing surgeries like mastectomies or the removal of the ovaries and fallopian tubes. People also consider chemo-prevention regimens of drugs and vitamins to delay or reduce cancer risk. Finding out you have a harmful BRCA mutation indicates a higher risk for your siblings, too, so what you learn can affect multiple family members.

How much does it cost?
Some insurance companies cover BRCA testing, which can range in cost from hundreds to thousands of dollars. The National Cancer Institute urges people to contact their insurance companies to discuss cost before getting the test. For those without insurance, some genetic testing companies offer free or discounted pricing for individuals who meet certain medical or financial eligibility standards.

Who can help?
There are myriad resources for people considering BRCA gene testing, including the Cancer Information Service at the National Institutes of Health (NIH) and many nonprofit organizations. Live and anonymous online chatting is available from the NIH weekdays from 8 a.m. to 11 p.m. ET (5 a.m. to 8 p.m. PT at http://livehelp.cancer.gov. You can also call 1-800-4-CANCER.