Inherited Gene Mutations Linked to Rare Form of Uterine Cancer

By Julie Grisham

on Friday, March 28, 2014

Pictured: Noah Kauff Noah Kauff, Director of Ovarian Cancer Screening and Prevention

A study has found that mutations in the gene BRCA1 are associated with an increased likelihood of developing a rare, aggressive form of uterine cancer.

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.

My wife, age 56, developed an aggressive uterine cancer that first presented as a soft tissue mass above the right posterior iliac crest in July 2014. It was soft, mobile and thought to be a lipoma. An appointment was made to have it removed but she developed shingles and it was delayed for 3 weeks. She had to go on a trip and when she retuned after 10 days she had such severe left hip pain she could not walk. I got an outpatient MRI of her lumbar spine and a pathological fracture of L4, pelvic mass, uterine, was found. I got her admitted to the hospital 3 days later and a oncology consultant found a right breast mass. biopsies of the L4 tumor, right iliac crest soft tissue mass, and right breast mass was thought to be breast. She underwent radiation to L4, after a kyphoplasty, for pain control. after 10 rad tx she was started on taxol weekly for 3 weeks and one week off. after s the 5th taxol tx over a 6 week period she reported the breast and flank ST mass getting larger. An MRA of the pelvis was done which showed mets to both hips. She had 10 more rad txs to hips and was started on lotrazol daily. IR did a uterine biopsy which confirmed uterine cancer of 88% certainty and 95% not breast. What options do I have for treatment? Are there any trial drugs or is T cell infusion an option? I am desperate to help my wife. I am an Emergency physician for 44 years in the same hospital. Thanks for any advice. William Holsonback, M.D.

William, we are sorry to hear what your wife has been going through. For a list of our current trials for uterine cancer, you can go to:…. To make an appointment to find out about these trials or any other care at MSK, you can call 800-525-2225 or go to for more information. Thank you for your comment.


I'm 40 yrs old with 2 children (19 & 15). After doing my research online I'm really considering having a hysterectomy and double mastectomy.
I have multiple fibroadenoma in both breast (2mm - 12,mm+) in size. So far I have had 2 lumps removed (both separate times it was benign). I also had anxially tissue removed from both left and right sides yrs ago (apple & plum sized).

Now for the bottom half...
I had an abnormal pap-smear and had pre-cancer and cancer cells removed from my cervix in the early 2000's. I have not had another abnormal pap-smear since.

I have 3 females cousins with breast cancer (1 with colon cancer) all got breast cancer post menopause. My grandmother had reproductive cancer.

I would like to take very step to prevent/ prolong the diagnose of cancer. My local doctor refused to do the genetic testing because I did not qualify er my insurance even when my breast oncologist and gyn both recommended..

What do you recommend?

Thank you,

Patricia, our Clinical Genetics Service helps people who are concerned about a family risk of cancer. You can call them at 646-888-4050 during regular business hours to make an appointment. To learn more you can go to Thank you for your comment.

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