Testing positive for BRCA1 and BRCA2

By Ruthie Harper, M.D. – July 1, 2013

What if my test comes back positive?

Some say that a mastectomy or hysterectomy seems like a drastic option if a test comes back positive and want to know what other options are available. Alternatives to bilateral mastectomy or hysterectomy include:

  • Intensive screenings—This route requires frequent mammograms and breast exams to look for signs for breast cancer and ultrasounds, blood tests, and clinic exams to inspect for ovarian cancer. Screenings are meant to catch signs of cancer early so that it is treatable, rather than decreasing chances of risk.
  • Drug therapy (chemoprevention)—Tamoxifen and Raloxifene are two drugs on the market that have been used to reduce risk of breast cancer in women with the BRCA mutation. This route doesn’t guarantee you will remain cancer free, but it has reportedly reduced the chance of breast cancer for high-risk women by up to 50 percent and has reduced the chance of recurrence for survivors. Although chemoprevention may work for some women, it is important to weigh the pros and cons of associated health risks and side effects associated with these medications.

Are there things I can do to improve my situation if my test comes back positive for genetic mutation? Are there factors that I can’t control that affect my chances of developing breast or ovarian cancer?

Certain behaviors have been associated with breast and ovarian cancer risk in the general population. Research regarding the benefits of modifying individual behaviors to reduce the risk of developing cancer among BRCA1 or BRCA2 mutation carriers are limited. Awareness of factors associated with risk of developing breast and/or ovarian cancer for all women is valuable despite not knowing their exact effect on women with BRCA1 or BRCA2 mutations. It is important to emphasize that the majority of breast cancers are not associated with BRCA1 or BRCA2 mutations.

  • Age—The risks of breast and ovarian cancer increase with age. Most breast and ovarian cancers occur in women over the age of 50. Women with harmful BRCA1 or BRCA2 mutations often develop breast or ovarian cancer before age 50.
  • Family History—Women who have a first-degree relative (mother, sister, or daughter) or other close relative with breast and/or ovarian cancer may be at increased risk of developing these cancers. In addition, women with relatives who have had colon cancer may be at increased risk of developing ovarian cancer.
  • Medical History—Women who have already had breast cancer are at increased risk of developing breast cancer again or of developing ovarian cancer.
  • Hormonal Influences—Estrogen is a hormone that is naturally produced by the body and stimulates the normal growth of breast tissue. It is thought that excess estrogen may contribute to breast cancer risk because of its natural role in stimulating breast cell growth. Women who had their first menstrual period before the age of 12 or experienced menopause after age 55 have a slightly increased risk of breast cancer, as do women who had their first child after age 30. Each of these factors increases the amount of time a woman’s body is exposed to estrogen. Removal of a woman’s ovaries, which are the main source of estrogen production, reduces the risk of breast cancer. Breast-feeding also reduces breast cancer risk and is thought to exert its effects through hormonal mechanisms.
  • Obesity—Substantial evidence indicates that obesity is associated with an increased risk of breast cancer, especially among postmenopausal women who have not used HRT. Evidence also suggests that obesity is associated with increased mortality (death) from ovarian cancer.
  • Physical Activity—Numerous studies have examined the relationship between physical activity and breast cancer risk, and most of these studies have shown that physical activity, especially strenuous physical activity, is associated with reduced risk. This decrease in risk appears to be more pronounced in premenopausal women and women with lower-than-normal body weight.
  • Alcohol—There is substantial evidence that alcohol consumption is associated with increased breast cancer risk. However, it is uncertain whether reducing alcohol consumption would decrease breast cancer risk.
  • Dietary Fat—Although early studies suggested a possible association between a high-fat diet and increased breast cancer risk, more recent studies have been inconclusive. In the WHI, a low-fat diet did not help reduce breast cancer risk.

Whether the person receives positive or negative results, there can be benefits to genetic testing. The potential benefits of a negative result include a sense of relief and the possibility that special preventive checkups, tests, or surgeries may not be needed. A positive test result can bring relief from uncertainty and allow people to make informed decisions about their future, including taking steps to reduce their cancer risk. In addition, many people who have a positive test result may be able to participate in medical research that could, in the long run, help reduce deaths from breast cancer.

The direct medical risks or harms of genetic testing are very small, but test results may have an effect on a person’s emotions, social relationships, finances, and medical choices.

People who receive a positive test result may feel anxious, depressed, or angry.
Those who receive a negative test result may experience “survivor guilt,” caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more loved ones.
Because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families.
Test results can also affect personal choices, such as marriage and childbearing.

Carefully consider whether genetic testing is right for you. If you are considering genetic testing, speak with a professional trained in genetics (a doctor or genetic counselor) before deciding what to do. For help finding a health care professional trained in genetics, please visit NCI’s Cancer Genetics Services Directory at cancer.gov/cancertopics/genetics/directory.

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