A study suggests that women who have a family member with an abnormal breast cancer gene but don't have an abnormal gene themselves do NOT have higher-than-average breast cancer risk. These results were reported at the 2008 San Antonio Breast Cancer Symposium.
Most inherited cases of breast cancer are associated with mutations in two genes: BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2). Women with a BRCA1 or BRCA2 genetic mutation have up to a 72% risk of developing breast cancer by age 80. Their risk of ovarian cancer is also increased. Abnormal BRCA1 and BRCA2 genes are found in 5% to 10% of all breast cancer cases in the United States. Other research has found that a woman's breast cancer risk may be higher than average when one or more of her close relatives has an abnormal BRCA1 or BRCA2 gene, even if she doesn't have an abnormal gene herself. The study reviewed here suggests that this may not be accurate.
Researchers followed the medical histories of almost 400 women from 28 families in which someone had an abnormal BRCA1 or BRCA2 gene. All the women in the study had been tested for an abnormal breast cancer gene before joining the study and none of them had an abnormal gene. Even though none of the women had an abnormal breast cancer gene, 13% of them chose to have their ovaries removed (prophylactic oophorectomy) to reduce breast cancer risk. It's likely that the women opted for ovary removal because they and their doctors thought their breast cancer risk was much higher than average, based on family history. Removing the ovaries can reduce breast cancer risk in high-risk women by dramatically lowering estrogen levels in the body. Estrogen can promote the growth of some breast cancers.
When the researchers analyzed the 18 years of medical information from the women in the study, they found that the women's breast cancer risk was the same as the average woman's, even after taking into account that some of the women in the study had their ovaries removed. In other words, women who don't have an abnormal breast cancer gene seem to have an average risk of breast cancer, even if someone else in their family does have an abnormal breast cancer gene.
While the women in this study were followed for 18 years, they were all young (about 31) when they joined the study. It could turn out that their breast cancer risk will be higher later on, after even more follow up time.
If you have a family member that has tested positive for an abnormal breast cancer gene, it's important to consider getting tested yourself. Just because one of your relatives has an abnormal gene doesn't mean you do, too. If you decided to get tested, work with your doctor to assess your breast cancer risk after you get your test results. Talk to your doctor about whether a genetic counselor could help you better understand your risk. Base your health decisions on the best information available to you.
For more information on genetics and breast cancer, visit the Breastcancer.org Breast Cancer Risk Factors: Genetics page.
Editor’s Note: This article was updated on Jan. 24, 2019, with updated information on cancer risk associated with BRCA mutations.