BRACAnalysis Testing

A BRACAnalysis test is a simple blood test that assesses a woman's risk for hereditary breast and ovarian cancers. "BRAC" stands for "Be Ready Against Cancer," and women at a high risk for Hereditary Breast and Ovarian Cancer Syndrome (HBOC) are encouraged to undergo BRACAnalysis testing early and frequently. Doing so allows women who know they are at risk for hereditary breast or ovarian cancer to make informed decisions about their health before cancer has a chance to develop. Women who test positive for the gene mutation may be able to delay cancer's onset; detect it at an earlier, more treatable stage; or prevent it entirely.

Candidates for BRACAnalysis Testing

BRACAnalysis testing is performed to confirm whether or not a woman carries a BRCA1 or BRCA2 gene mutation, which is responsible for causing most hereditary breast and ovarian cancers. A woman who carries either gene has up to an 87 percent chance of developing breast cancer, and up to a 44 percent chance of developing ovarian cancer, by the age of 70.

A woman is considered a suitable candidate for BRACAnalysis testing if she or a close relative, which includes a parent, sibling, child, uncle, aunt, great uncle, great aunt, nephew, niece, grandparent, grandchild, half-sibling or first cousin, meets the following criteria:

  • Was diagnosed with breast cancer at or before the age of 50
  • Was diagnosed with ovarian cancer
  • Was diagnosed with triple-negative breast cancer

She is also a suitable candidate for BRACAnalysis testing if she has the following:

  • A male close relative who was diagnosed with breast cancer
  • A close relative who was diagnosed with two breast cancers
  • Two close relatives (same side of family), one younger than 50, who had/have breast cancer
  • A close relative who had/has pancreatic cancer and an HBOC-associated cancer
  • A family history (same side of family) of pancreatic cancer and an HBOC-associated cancer
  • Three close relatives (same side of family) who had/have breast cancer
  • A previously identified BRCA1 or BRCA2 mutation in her family
  • Ashkenazi Jewish ancestry, and she or a close relative had/have an HBOC-associated cancer

HBOC-associated cancers are those of the breast, ovaries and pancreas.

BRACAnalysis testing is also appropriate for men. Even though male breast cancer is rare, men who carry BRCA gene mutations are at increased risk for developing breast and prostate cancers. A man who has a personal history of breast cancer, a family history of breast or ovarian cancer, or a family member with a BRCA1 and BRCA2 mutation is a candidate for the test.

Benefits of BRACAnalysis Testing

Whether its results are positive or negative, BRACAnalysis testing provides significant benefits.

Positive Test Result

A woman who tests positive for a BRCA1 or BRCA2 mutation can have a treatment plan created for her specific medical circumstances, which maximizes the quality of her care. And, by diagnosing the potential for breast or ovarian cancer, her outcome may be improved and her medical costs reduced. A positive result also means that other family members can be counseled about the possibility of being BRCA1/BRCA2 carriers.

Negative Test Result

A woman who tests negative for a BRCA1 or BRCA2 gene mutation can stop worrying that she is at a higher risk for developing breast or ovarian cancer than women without it. And for a woman who has tested negative but has family members who have tested positive, unnecessary interventions on her behalf can be avoided.

Options for Patients Who Test Positive

A woman who tests positive for a BRCA1 or BRCA2 gene mutation can manage her higher risk for developing breast or ovarian cancer in a number of ways, including those listed below.

Increased Screening

A woman who tests positive needs to be vigilant about being checked for breast and ovarian cancers. It is recommended that she do the following:

  • Perform monthly breast self-exams, starting between the ages of 18 and 21
  • Have yearly mammograms and breast MRI scans, starting between the ages of 25 and 35 (or earlier, based on family history)
  • Undergo annual or semiannual transvaginal ultrasound between the ages of 25 and 35 (or earlier, based on family history)

Chemoprevention

It may be recommended that a woman take certain drugs to reduce her cancer risk. Tamoxifen has been shown to reduce the risk of breast cancer, and oral contraceptives may reduce the risk of ovarian cancer.

Preventive Surgery

Surgery can also be performed to reduce a woman's cancer risk. Preventive mastectomy significantly reduces the risk of breast cancer, and preventive oophorectomy (removal of the ovaries) significantly reduces the risk of ovarian cancer.

Having a BRCA1 or BRCA2 gene mutation also increases the risk of other cancers, including, for both men and women, pancreatic cancer.

Additional Resources