Breast Cancer Gene Testing

With all the information on breast cancer now, many women are being more vigilant about being screened and followed for breast cancer. But now, a new government panel says doing high tech genetic testing should be reserved for only a small handful of women. It’s the most aggressive form of breast cancer testing: a screen for the two genes identified with most cases of inherited breast cancer. But the tests are only helpful if you are at the highest risk, and then, only if you intend to do something about the results if they are indeed positive, as in Diane green’s case. She knew in her twenties and thirties there was something brewing in her family

But the tests are only helpful if you are at the highest risk, and then, only if you intend to do something about the results if they are indeed positive, as in Diane green’s case. She knew in her twenties and thirties there was something brewing in her family. "Mother’s sister, mother’s brother, and my mom all died of breast cancer," says Diane. She was offered testing for the BRCA 1 and 2 genes...which are the cause of most inherited breast cancers. She turned it down at the time.

"I wasn’t doing was the prophylactic mastectomy, prior to having the cancer and never having a scare, that seemed incredibly drastic to me. Once you have the cancer, you want them to take whatever they have to take to make you healthy again." And that’s what happened; she did develop cancer. It was caught early, she tested positive for the genes, and had her breasts removed, as did her two sisters.

But, according to the U.S. Preventitive Services Task Force, patients should only be referred for testing if they have a strong family history suggestive of inherited cancer. These are the first set of guidelines released on genetic testing, prompted by concerns of overuse. Dr. Lora Weiselberg, Chief of the Breast Cancer Service at North Shore/LIJ Hospital, New York, says, "I refer a patient to a genetic counselor because the counseling is more important that the testing. If it’s not going to change anything they might not want to go through the anxiety and expense of the test."

A positive test would prompt, in many, surgical removal of both breasts and both ovaries. According to the researchers about two percent of women in the u.s. will have a family history that points toward a risk of having a BRCA mutation. However, not all these women will have a mutation, and not all the women with a mutation will develop breast or ovarian cancer. Women who are of Eastern European, or Ashkenazi Jewish heritage are the ones most at risk.

Anyone else need to have at least two first degree relatives, like a mother or sister, with breast cancer, typically diagnosed at younger than 50 years of age. Otherwise, referral for genetic screening is not indicated. "Only five to ten percent of women with breast cancer have a mutation. So it’s not as common as you might think," says Dr. Weiselberg. In women with one of these mutations, the risk of developing breast cancer by age 70 is 35% to 84% for breast cancer, and 10% to 50% for ovarian cancer.

The study did find women can greatly reduce their cancer risk by having their breasts and ovaries removed, like Diane did. If a woman, in New York, New Jersey or any other place, has any concerns she’s at risk for an inherited cancer, she should go to medical oncologist for consultation to see if the risk for breast cancer is significant enough to warrant genetic testing.