Category Archives: BRCA mutation

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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