Genetic Testing

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Genetic testing is a method of detecting whether a person is at risk for being diagnosed with cancer later in life and, together with regular preventive measures such as mammograms, can lead to an early discovery of breast cancer. 

Woman’s genetic counselors can help you understand your genetic risks for developing breast cancer or gynecologic cancer. They will explain the process and what the results of these tests could mean. It is very important that you know what genetic testing can and can’t tell you, and to carefully weigh the pros and cons of testing before these tests are done.

Use this family history worksheet [pdf] to determine if you have a family history of cancer, and ask your doctor if genetic testing is right for you. Ask your doctor for a referral to a genetic counselor.

Video: Genetic Testing For Cancer

BRCA1 and BRCA2 Testing for Breast Cancer

Genetic testing examines the BRCA1 and BRCA2 genes for any mutations. In normal cells, these genes help ensure the stability of the cell’s genetic material and prevent uncontrolled cell growth. Mutation of these genes has been linked to the development of hereditary cancer, including breast and ovarian cancers.

A blood sample is used to test the genes for any signs of mutation. A woman with a BRCA1 or BRCA2 mutation is five times more likely to develop breast cancer than a woman without the mutation. However, the discovery of the mutation is no guarantee that breast cancer will occur. There is also an increased risk for other cancers in those with a BRCA mutation. Our genetic counselors and doctors will guide you through the results and what they may mean for you in the future.

What branches of your family tree matter in genetic testing?

Genetic counselors like to look at three generations; this is because first-degree relatives (parents, siblings and children), second-degree relatives (aunts, uncles, grandparents, grandchildren) and third-degree relatives (great aunts and uncles, first cousins) all “count” when trying to decide if you should consider genetic testing. 

Different cancers hold different risks with regard to genetics. About 12% of women in the general population will develop breast cancer at some point in their lifetime. This considered a high number, so if you have a family history of a few older aunts or grandparents with breast cancer, it does not always cause suspicion for a genetic mutation. This is different than ovarian cancer, for example, where only 1.5% of women in the general population develop ovarian cancer; if a family member had ovarian cancer, you may qualify for genetic testing. 

Cancer is on my father’s side. Am I “safe”?

It’s a common myth that a woman is “safe” from cancer if the women on her father’s side of the family had cancer, but not her mom’s. Men can still inherit genetic mutations that would predispose a woman to a female cancer, but of course they wouldn’t have symptoms because they don’t have female organs (ovaries, fallopian tubes, etc). So, be sure to get a history from both sides of the family because each side plays just as important a role in figuring out your risk.