BRCA1 Gene Mutations Increase Risk of Developing Aggressive Uterine Cancer, Study Reveals

BRCA1 Gene Mutations Increase Risk of Developing Aggressive Uterine Cancer, Study Reveals
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Women who carry the BRCA1 gene mutation are known to be at higher risk for breast and ovarian cancer. Now, researchers at Duke Cancer Institute have shown that the risk for an aggressive form of uterine cancer is also increased in these women, revealing that hysterectomy, the surgical removal of the uterus, should be considered a treatment option.

The study “Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations,” was published in the journal JAMA Oncology.

Women with the BRCA1 gene mutation often have preventive surgeries to remove both breasts, as well as their ovaries and fallopian tubes. But the need to remove the uterus has been a controversial topic due to conflicting evidence.

Although small studies have identified an association between BRCA1 mutation and uterine cancer, larger studies were needed to understand whether hysterectomy should be standard treatment for women with this mutation.

“This is the study that has been needed,” lead author Noah D. Kauff, MD, who leads the Clinical Cancer Genetics Program at the Duke Cancer Institute, said in a press release. “Our study presents the strongest evidence to date that women with this genetic mutation should at least discuss with their doctors the option of having a hysterectomy along with removal of their ovaries and fallopian tubes.”

Researchers examined 1,083 women from nine medical centers in the U.S. and the United Kingdom who underwent surgery to remove both ovaries and fallopian tubes, but not the uterus, and were followed for a median of 5.1 years. Among the participants, 627 women had deleterious mutation on BRCA1+, 453 on BRCA2+, and three women on both genes.

The incidence of uterine cancer in women with BRCA mutations was compared to that expected in the overall population, as assessed from data collected by the U.S. government’s Surveillance, Epidemiology, and End Results program. Results revealed that although the overall risk for uterine cancer was not increased with BRCA mutations, the risk for a particularly aggressive form of uterine cancer, called serous endometrial cancer, was significantly higher.

These findings are important because this cancer has a high mortality rate of 50 percent, but may be prevented through hysterectomy, especially in women who are undergoing surgery to remove their fallopian tubes and ovaries.

“Our findings suggest that it may be important for women with BRCA1 mutations to consider removing their uterus at the time they are considering removing their ovaries and fallopian tubes, unless they are hoping to still have children using assisted reproductive methods or have other medical reasons,” Kauff said.

In women who have already removed their ovaries and fallopian tubes, however, it is not known if a second surgery to remove the uterus is beneficial, and this needs further assessment.

“We need additional studies to address whether a 25-year risk of serous uterine cancer of 2.6 percent to 4.7 percent justifies the costs and potential complications of a second surgery,” Kauff said.

Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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