Uterine cancer

Uterine cancer is also called “endometrial cancer." There have been several studies suggesting that BRCA mutation carriers may be at an increased risk of uterine cancer when compared to the general population.  

A recent study showed that women with a BRCA1 mutation may be at slightly elevated risk for a rare and aggressive form uterine cancer. The study followed BRCA mutation carriers who had their ovaries and fallopian tubes surgically removed, but kept the uterus intact. The risk of uterine cancer by age 70 was calculated to be 2.5%-4% for BRCA1 mutation carriers.  Some of the women had used the drug tamoxifen, which is known to increase uterine cancer risk. While statistically significant, the overall risk is still relatively small. The same study did not find an increase risk of uterine cancer in BRCA2 mutations carriers.  Based on this study, and similar work, women with BRCA mutations may wish to discuss removing their uterus (hysterectomy) at the time of risk-reducing surgery to remove their ovaries and fallopian tubes.  There is currently not enough research to know whether BRCA mutation carriers who have already had risk-reducing surgery to remove their ovaries and fallopian tubes should consider a second surgery to remove their uterus.

Uterine risk is greatly increased in women who carry one of the genes that causes Lynch syndrome (HNPCC), a hereditary syndrome which also causes an increased risk for colon cancer. One study showed the lifetime risk for uterine cancer in this group can be as high as 60%.  National guidelines recommend that women with Lynch syndrome consider risk-reducing removal of their uterus (hysterectomy).  

Women with inherited mutations in BRCA1, or one of the genes associated with Lynch syndrome should report unusual bleeding to their health care providers immediately.

Updated 11/02/2016