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| June 14 | |
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Breast Cancer |
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Researchers in the Netherlands followed 680 people who did not have cancer, but did have a significant risk of carrying the BRCA1 or BRCA2 gene mutation. The risk was determined by the fact that a relative had tested positive for the mutation. Having a mutation significantly increases the risk of having breast or ovarian cancer, especially in women. The mutation can also be passed along to sons and daughters. Forty-eight percent of the women and 22 percent of the men opted for the genetic testing. Out of those women who had the mutation, more than half decided to undergo preventive surgery—either removal of the breasts or ovaries. This study’s authors conclude that there is a high demand for genetic testing by women who are at risk, as well as a demand for preventive surgery for those who test positive. However, the costs for testing and surgery are fully covered by health insurance in the Netherlands. Thus, the lack of financial barriers may have played a part in the decision of the participants. |
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Does this mean that everyone who has a family member with breast cancer should consider testing? The short answer is no. In the study, it was known that a family member actually had the gene mutation. Without that information, one would use a family history. There aren’t any strict guidelines, but data does suggest that women with two or more relatives with breast cancer may be appropriate candidates for screening. DNA testing provides additional information about one’s risk for cancer. But it is not the only factor that affects risk. It’s important to remember that having the BRCA gene mutation does not necessarily mean that one will develop breast or ovarian cancer. Conversely, not having it does not guarantee one will not develop cancer. If you have a family history of breast or ovarian cancer, speak with your doctor—not only about testing but about the impact of having the information. For example, discuss what action, if any, you might take once you are tested. Is preventive surgery the only option for women at high risk for breast or ovarian cancer? There are other choices, such as medicine and regular monitoring. For example, tamoxifen has been shown to reduce the risk of breast cancer by 49% in high-risk women followed over less than five years. Unfortunately, we don’t know the length of effectiveness and it does have side effects and some risk associated with using it. Regular monitoring for cancer has not been shown to be effective in reducing death from ovarian cancer; young women at risk for breast cancer may still stand a significant risk of developing metastatic breast cancer using this option. Both mastectomy and oopherectomy, while reducing risk significantly, do not eradicate the risk completely. A small percentage of women who have chosen surgery have developed cancer in the remaining tissue. So it’s important that women who choose this option continue to obtain mammograms and pelvic exams. Finally, prophylactic mastectomy is a major surgery that deforms the body. It can affect body image and psychological health. However, the authors in the current study suggest that women who have mastectomy after adequate counseling value the relief from the fear of cancer. The bottom line—the individual must be fully informed, weigh the risks and benefits, and make the choice that is most comfortable for them. | |
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RESOURCES:
Lancet 2000; 355:2015-2020 |
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