Genetic Testing for Women at High Risk for Breast and Ovarian Cancers


Debu Tripathy, editor-in-chief of CURE magazine and breast oncologist, discusses genetic testing from the 32nd annual Miami Breast Cancer Conference.

Debu Tripathy, editor-in-chief of CURE magazine and breast oncologist, discusses genetic testing from the 32nd annual Miami Breast Cancer Conference.

The two most common genes that increase risk of breast cancer is BRCA1 and BRCA2. The debate now is should we screen individuals based on family history and not after a cancer diagnosis.

Those who are diagnosed with breast cancer under age 45, we recommend genetic counseling before proceeding with genetic testing for BRCA1 or BRCA2. Individuals who have a strong family history of ovarian cancer and male breast cancer also should discuss genetic testing with a counselor.

However, individuals who undergo genetic testing and discover they do not have a BRCA mutation, doesn't necessarily mean they do not have a genetic predisposition to breast and ovarian cancers, as there are other genetic mutations that can increase the risk of these cancers.

"One of the developments that have occurred with next-generation sequencing is that we can not only look for BRCA 1 and 2, but we can look across the entire genome and identify other genes that have recently been associated with an increase risk of breast cancer," he says. "Although we know less about these genes."

Panel testing would allow physicians, particularly with patients who have a strong family history but who do not have a BRCA mutation, to find out what is causing that possible familial association, he says.

"It's critical that patients get genetic counseling, not just testing in the doctor's office," he says.

Genetic counselors have the expertise to talk, not only about the science behind it, but the emotional issues and patient choice issues and the preferences that go into making this important decision, he says.

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