Category Archives: Formal Risk Assessment

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I have young daughters. Is there anything they should be doing at this point?

No matter how young your daughters are, you can start encouraging good habits such as exercising regularly, maintaining a healthy weight, and eating a healthful diet. Once they become teenagers or young adults, you may wish to let them know about their family history and introduce the idea of genetic counseling and testing. You and your daughters can work with their doctors to determine what’s best in their particular situation.

At the very least, doctors generally recommend regular clinical breast exams starting at age 18. They also can instruct your daughters on how to perform monthly breast self-exams.
Young women who have inherited a BRCA mutation are advised to start having annual mammograms and MRIs of the breast by age 25. One advantage to having genetic testing information is that young women who test negative for the BRCA mutation do not need to start screening so early. In the absence of genetic testing information, recommendations need to be tailored to the individual, but screening typically begins in the late 20s or early 30s—at least before age 40, which is the usual recommendation for women at average risk.

Some doctors also may prescribe oral contraceptives, which have been shown to reduce ovarian cancer risk. However, since long-term oral contraceptive use may slightly increase breast cancer risk, the pros and cons of this approach need to be discussed on an individual basis.

You can help your daughters by staying up-to-date on the latest research and medical recommendations for women who are considered high-risk. As they grow older, you will be able to help them understand the many options they have.
Reviewed by Jill Stopfer, MS

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Surgery doesn’t seem like the right answer for me. Is there anything else I can do to lower my risk of breast cancer?

Your doctor may prescribe a medication such as tamoxifen or raloxifene, two selective estrogen response modifiers (SERMs) that block the effects of estrogen on breast tissue, which inhibits the cancer development process in some women. In 1998, the Food and Drug Administration approved the use of tamoxifen for reducing the incidence of breast cancer in women with multiple risk factors for the disease. This approval was based on the results of the National Cancer Institute’s Breast Cancer Prevention Trial, which showed that tamoxifen reduced the chance of getting breast cancer by 44 percent. However, the specific impact of tamoxifen on risk in women with BRCA1 and BRCA2 mutations has not yet been studied thoroughly. Risks of tamoxifen include uterine cancer, blood clots, cataracts, and menopausal symptoms.

The SERM raloxifene has been found to reduce breast cancer risk as much as tamoxifen does, but with a lower risk of side effects. However, its impact on BRCA1 and BRCA2-related risk also has not yet been studied thoroughly.

You can discuss these and other options with your doctor, along with the possibility of taking oral contraceptives to lower ovarian cancer risk. You may wish to participate in a clinical trial that is studying different approaches to lowering cancer risk in women like you. A good starting point is the clinical trials section of the National Cancer Institute Web site.

Finally, you can follow the recommendations given to all women for lowering breast cancer risk, such as maintaining a healthy weight, eating a healthful diet rich in fruit and vegetables, exercising regularly, and limiting alcohol intake to no more than one drink per day.
Reviewed by Jill Stopfer, MS

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How is genetic testing done?

The test involves giving a small sample of blood that is tested in a lab for the BRCA mutations. Results are generally available in about three to four weeks. You should receive them from your doctor and/or genetic counselor through either a scheduled telephone or in-person appointment, so that all the ramifications of the results for your personal situation can be discussed.
The results are most meaningful if a BRCA mutation has already been confirmed in a relative who had cancer. If at all possible, a sample of his or her blood or tissue should be tested first.
Reviewed by Jill Stopfer, MS

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I’m not sure I want to know whether or not I have inherited a BRCA mutation. What are the main advantages and disadvantages of going through with genetic counseling and testing?

The main advantage is knowledge. If you know that the breast and/or ovarian cancer in your family is due to a genetic mutation, and you test negative, you no longer have to worry about being high risk. If you test positive, you can take steps to prevent cancer, such as having surgery or taking medications, or try to catch it early through more frequent screenings starting at a younger age.

There are some disadvantages. You may feel excessively anxious after receiving a positive result. You may not want to have surgery, and you may worry that screening and medications offer no guarantees against getting cancer. The genetic testing process also can cause family strife if members disagree on whether or not it is a good idea. Finally, genetic testing results are not always straightforward, sometimes coming back “indeterminate” or uncertain. This is one reason why it is critical to have your testing arranged by someone who has expertise in cancer genetics.

Your doctor and genetic counselor can help you weigh these and other issues carefully before moving ahead. You also can change your mind at any point in the process. Once results are available, for example, you can choose to delay receiving them until you are ready.
Reviewed by Jill Stopfer, MS

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If I do have a BRCA mutation, how does my risk for breast cancer compare to that of an average woman? Am I at risk for any other health conditions?

If you have a BRCA mutation, your lifetime risk of breast cancer ranges from 50 to 85 percent, versus 13 percent for an “average risk” woman. Your risk of ovarian cancer is higher as well, ranging anywhere from 16 to 60 percent, versus just 1-2 percent for the average woman. (The range is due to different findings from different studies, as well as the fact that BRCA1 and BRCA2 are associated with different levels of risk.) In addition, if you have a BRCA mutation, you are more likely to develop these cancers before age 50.

Your genetic counselor can help you better understand your individual level of risk.
Reviewed by Jill Stopfer, MS

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Are the so-called “breast cancer genes” (BRCA1 and BRCA2) the only two that increase breast cancer risk? And are they always inherited on the mother’s side?

You can inherit mutations in the genes known as “BRCA1″ or “BRCA2″ from either your mother’s or your father’s side of the family. Normally, BRCA1 and BRCA2 function as tumor suppressor genes, producing proteins that help repair any damage to your cells’ genetic information and suppress abnormal cell growth. When a BRCA1 or BRCA2 gene has a mutation, or a “misspelling” in the letters of the genetic code, this repair function is usually lost—increasing the risk for breast, ovarian, and some other cancers.

In some families, multiple cases of breast and/or ovarian cancer cannot be traced back to the BRCA1 or BRCA2 genes. Researchers are now searching for other inherited genetic mutations that may be responsible for increased risk.

Regardless of family history, you also may be considered to be at higher-than-average risk for breast cancer if you:

  • Had radiation therapy to the chest for treatment of a past cancer
  • Have had previous breast biopsies (examination of surgically removed tissue under a microscope) that detected atypical hyperplasia (fast-growing cells)
  • Have been diagnosed with ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS). These conditions are considered to be “pre-cancers” because they stay in place and do not spread to surrounding tissues.

Reviewed by Jill Stopfer, MS

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What does a formal risk assessment involve?

This process typically involves working through the following series of steps with a genetic counselor:

  • Education about breast and ovarian cancer and the factors that increase and decrease risk
  • Analysis of your family tree, showing the pattern of cancer in your family—who was affected and their ages at diagnosis
  • Education and counseling about genetic testing options (a blood test for inherited mutations in the genes known as BRCA1 and BRCA2)
  • Genetic testing, if appropriate
  • Discussion of the test results
  • Further counseling about special screening and risk-reduction options, if you are found to be high risk.

Reviewed by Jill Stopfer, MS

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I have a couple of relatives who have been diagnosed with breast cancer. Does that automatically mean I am at high risk?

Not necessarily. It really depends on the pattern of cancer in your family. Your doctor may suspect Hereditary Breast and Ovarian Cancer Syndrome—the name given to inherited risk for these diseases—based on the following criteria:

  • Two or more family members on the same side (your mother’s or father’s) have been diagnosed with breast and/or ovarian cancer.
  • One or more cases of these cancers were diagnosed before age 50. (Because most cancers develop later in life, younger diagnosis suggests the possibility of inherited risk.)
  • Your affected relative(s) is your first-degree relation (mother, sister, daughter).
  • Any relative had cancer more than once, had breast cancer in both breasts, or has had both breast and ovarian cancer.
  • You are of Eastern European Jewish ancestry and have had breast or ovarian cancer, or a history of breast or ovarian cancer in close relatives.
  • A close relative has had male breast cancer.

To fully understand whether or not you might be “high risk,” you need to go through a formal risk assessment process with a genetic counselor, a health professional specially trained to provide information and advice about inherited conditions.

Reviewed by Jill Stopfer, MS