Johns Hopkins
Your Breast Cancer Test

You've been tested for breast cancer genes and the test comes back negative. So is it time to celebrate? Possibly--but maybe you should get some more information about your genetic outlook before throwing that party.

Many women are becoming aware that there are specific genes that predispose them and their offspring and siblings (including men) for breast cancer (and ovarian cancer). At particularly high risk for carrying such genes are those women

  • who themselves have been diagnosed with breast cancer young (under age 40)
  • with a family history of first-degree relatives who were diagnosed before menopause

Today, many of these women with a family history and an early diagnosis are going in for genetic testing. Their blood is drawn and, two weeks later, the results are back and, in many cases, those results are negative. This is great news for our offspring and siblings, right?

Yes, But It's Not the End of the Story

Why am I saying that it might be too early to break out the cake and confetti? Because when a patient is diagnosed at a young age and also has a compelling family history (i.e., several close relatives diagnosed with breast cancer early), such a set of circumstances can sometimes mean that she and her family still might be carrying a breast cancer gene--but one that researchers have not yet discovered.

Genetic Counseling a Must

This is a key reason why anyone who is planning to get genetic testing should first get genetic counseling. Genetic counselors can give patients like these a sense of what the probabilities are that they and their family members will pass on a high risk for breast cancer to each succeeding generation. And so even those who test negative, once they learn more about the odds, will sometimes choose to reduce their chances of a recurrence by means that are more aggressive.

It's something to think about.

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