Women with BRCA1 Gene Mutation at Higher Risk of Uncommon, But Deadly, Uterine Cancer

Women who carry the BRCA1 gene mutation that dramatically increases their risk of breast and ovarian cancers are also at higher risk for a lethal form of uterine cancer, according to a study led by a Duke Cancer Institute researcher. This newly defined risk - the first to show a conclusive link between the BRCA1 gene mutation and a small, but significant chance, of developing an aggressive uterine cancer - could become a consideration in weighing treatment options. Currently, women with the BRCA1 mutation often have preventive surgeries to remove both breasts, as well as their ovaries and fallopian tubes, based on studies showing that the gene mutation elevates their risk for cancers in those organs. But conflicting evidence has created controversy over the need to remove the uterus. Smaller studies identified a link between the gene mutation and uterine cancer, but the evidence to change practice has hinged on results from a well-designed study using a larger patient population from multiple sites. "This is the study that has been needed," said lead author Noah D. Kauff, M.D., who leads the Clinical Cancer Genetics Program at the Duke Cancer Institute. "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." In the current study, published online on June 30, 2016 in the journal JAMA Oncology, Dr. Kauff and colleagues from nine other institutions in the U.S. and the United Kingdom analyzed data from 1,083 women. All had BRCA1 or BRCA2 genetic mutations, had undergone removal of their ovaries and fallopian tubes, and were followed for a median 5.1 years.
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