If You're at High Risk, What Should You Do to Prevent Breast or Ovarian Cancer?

While most of us know that our personal medical history affects our risk of certain diseases, family background is important as well. Scientists still don't fully understand the interplay between genes and disease risk, but they are making progress.

One example is research on a gene mutation that increases a woman's risk of breast and ovarian cancer. If you have the mutations, called BRCA1 and BRCA2, you have a lifetime breast cancer risk of 56 to 84 percent as well as a higher chance of getting ovarian cancer than a woman who does not have the mutations.  From 10 to 20 percent of breast and ovarian cancers are due to BRCA1 and BRCA2.  That's why it's important for women with a family history of these cancers to get genetic counseling and testing. (For more information on this, click here.)

But new knowledge also brings new problems. If you find that you're carrying the BRCA1 and BRCA2 genes, then you have a difficult choice: whether or not to have prophylactic surgery to remove your breast and ovaries before there's any sign of cancer. It can be an excruciating decision, especially for younger women who are trying to decide whether to remove their ovaries before they've had children. But even if your family is complete, it's still a tough choice.  Should you act preemptively before there's any sign of cancer?

That decision may be a little clearer now, thanks to a study published today in the Journal of the American Medical Association (JAMA). Researchers from the University of Pennsylvania medical school found that women with these genes live longer and nearly eliminate their cancer risk by removing their breasts in a mastectomy or their ovaries and fallopian tubes in a procedure called a salpingo-oophorectomy.

 The other option is to watch and wait for signs of disease by getting frequent mammograms and breast magnetic resonance imaging but that does not prevent the disease, say other scientists commenting in JAMA on this study.  Ovarian cancer screening is even less effective, scientists say.

The JAMA study followed 2,482 women with BRCA1 or BRCA2 mutations at 22 clinical and research genetic centers in Europe and North America.

Is this a choice you or someone in your family is facing? Does the study help you decide?