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On Cancer: Inherited Gene Mutations Linked to Rare Form of Uterine Cancer

By Julie Grisham, MS, Science Writer/Editor  |  Friday, March 28, 2014
Pictured: Noah Kauff Noah Kauff, Director of Ovarian Cancer Screening and Prevention

For about two decades, we have known that mutations in the genes BRCA1 and BRCA2 are linked to an increased risk of breast and ovarian cancers. Many women who learn they have inherited one of these mutations choose to have their ovaries and fallopian tubes removed, in a procedure called risk-reducing salpingo-oophorectomy (RRSO).

Now findings from a Memorial Sloan Kettering study have revealed that women with mutations in BRCA1 may also have an increased risk of developing a rare, aggressive form of uterine cancer. Noah Kauff, Director of Ovarian Cancer Screening and Prevention, is the senior author of the study. Memorial Sloan Kettering fellow Catherine Shu, the first author, presented the study earlier this week at the Society of Gynecologic Oncology’s annual meeting in Tampa.

A review of 296 women who underwent RRSO after testing positive for BRCA1 mutations found that four of them later developed an aggressive form of uterine cancer. These four women had not had their uterus removed at the time of surgery (a procedure called hysterectomy). On average, the women in the study had a 2.1 percent risk of developing this rare type of uterine cancer — a 26-fold increased risk compared with what would be expected in the general population.

The study did not find any increased risk of uterine cancer linked to BRCA2 mutations.

Based on the findings, women undergoing RRSO because they have a BRCA1 mutation may want to consider having a hysterectomy as well and should discuss it with their doctors. However, more studies are needed to confirm the findings before this procedure is routinely recommended.

Learn more about this study in an article from the Associated Press.

If you have a family history of cancer, the Clinical Genetics Service at Memorial Sloan Kettering can help you to understand your risk for disease.


I guess this is good news for those at risk of such cancers, but probably difficult to be told that you have to go through a hysterectomy as well.

I am BRCA1 who already had a prophylactic bilateral mastectomy and an oophorectomy. I do have my uterus. After reading your article, I am worried about my increased chances of developing uterine cancer. Do you suggest having my uterus removed?

Dear Kristina, we understand your concern. Unfortunately, we cannot offer medical advice on our blog. If you are interested in discussing your cancer risk and risk reducing options with one of our clinical genetics experts, please call 646-888-4050. For more information, visit Thank you for your comment.

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