A bit of frustrating news for women facing a battle with breast cancer. The tests thought to be highly reliable in detecting the genes linked to breast and ovarian cancer, have been shown to miss many cases.
"I've actually had breast cancer twice, I'm on my second go round as we speak," says Jody Rosen-Knower. Jody was first diagnosed with breast cancer at age 34. She tested negative for the breast cancer genes BRCA-1 and BRCA-2. But was Jody's negative or normal test, really normal or was her test wrong? It's highly possible, according to new research in the Journal of the American Medical Association.
"There are women who carry mutations of the BRCA-1 and 2 genes who receive negative, which is to say normal genetic testing results, who nonetheless carry cancer associated mutations which convey very high risk of breast and ovarian cancer. And those mutations cannot be detected by methods used in this country," explains researcher Dr. Mary-Claire King.
The currently available gene test, patented by Myriad Genetics, misses several types of mutations or alterations in genes. Twelve percent of those with a strong family history will test negative, or normal. But still carry a dangerous abnormal copy that could lead to cancer. So what do you do when you get a normal result but you suspect a genetic link?
"We basically advise most women to make their steps without their BRACA test. That they have to make the decision as though they are genetically positive," says genetic counselor Andrea Geduld.
The long term goal: to make a better test.
Dr. King says, "It's not easy. But it is technically doable."
Every two minutes a woman in this country is diagnosed with breast cancer. The good news is that there are over two million breast cancer survivors in the U.S. today.
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