Durham, North Carolina – Women with the BRCA1 gene mutation are at increased risk of developing a deadly form of uterine cancer, according to a study led by the Duke Cancer Institute.
Mutations in women’s BRCA genes are known for considerably raise the risk of breast and ovarian cancer. Now, this new study also links the mutation to an aggressive and very rare form of uterine cancer, called endometrial cancer.
The study published in the journal JAMA Oncology was led by Dr. Noah Kauff, head of the Clinical Cancer Genetics Program at the Duke Cancer Institute. Researchers followed 1,083 women from the United States and the United Kingdom during a median of 5.1 years. They all had BRCA1 or BRCA2 mutations -or both, in the case of three Women-, and a risk-reducing salpingo-oophorectomy (RRSO) procedure, which removes ovaries and fallopian tubes to limit the risk of cancer.
Researchers found that, during that period, five out of the 627 women with BRCA1 mutations and three out of the 453 women BRCA2 mutations, were diagnosed with uterine cancer. Five of the eight women developed severe endometrial cancer, which is extremely aggressive. Four of them had the BRCA1 mutation, while the other one had the BRCA2 mutation.
Compared to uterine cancer incidence rates they got from the Surveillance, Epidemiology, and End Results (SEER) database, these rates were a bit higher than expected, but not statistically different.
— Lisa M Guzzardi, RN (@LguzzardiM) July 1, 2016
Women with BRCA1 gene mutation should consider having a hysterectomy
Kauff suggests women that present the BRCA1 mutation to remove their uterus along with their ovaries and fallopian tubes, or at least discuss it with their doctors, to prevent the chances of developing serous endometrial cancer, which has a mortality rate of 50 percent.
Nevertheless, for women who have already had an RRSO or a surgical procedure to remove their breasts, it is still unclear how beneficial it would be to undergo another surgery to remove the uterus, researchers stated, according to WebMD.
“This is an event that should not occur in the over 600 women with BRCA1 mutations in our study,” Kauff said.
He added that in a hypothetical 25-year study, researchers would not expect to see more than one case of cancer. Probabilities are so low -2.6 to 4.7 percent- that it is yet to see if it is enough to justify the potential complications a posterior hysterectomy could lead to.
However, if future studies confirm the results this study had, “hysterectomy with bilateral salpingo-oophorectomy may become the preferred risk-reducing surgical approach for BRCA1+ women,” Kauff and his colleagues stated, though the simultaneous hysterectomy has been controversial.
— PeerJ – the journal (@thePeerJ) June 28, 2016
An editorial to the study written by a group of oncologists mentioned that “Perhaps it is time to consider that the line for risk-reducing gynecologic surgery in patients with BRCA mutations not stop at the ovaries and fallopian tubes.”