BRCA1 mutation linked to highly aggressive uterine cancer

NEW YORK, July 12 (UPI) — Women with BRCA1 or BRCA2 genetic mutations are already at a much higher risk for breast, ovarian or fallopian tube cancer but a recent study links the mutation to a very aggressive form of uterine cancer.

Researchers at Columbia University recommend women with the mutation consider a hysterectomy, and possibly other surgery, in order to lower their uterine cancer risk based on the “striking” results of the study.

The BRCA1 mutation has been linked to a huge increase in risk for breast cancer by several studies, with 87 percent of women diagnosed with breast cancer undergoing genetic testing for the mutation that can cause more aggressive forms of the disease.

The BRCA mutations are known to increase risk for ovarian cancer or return of breast cancer, leading many women who test positive for them to opt for an oophorectomy, removal of the ovaries and fallopian tubes, because it can lower risk by about 56 percent.

Researchers in the new study suggest women with the mutation consider a hysterectomy as well to lower their uterine cancer risk.

“Our study provides the strongest evidence to date that BRCA1 mutations are associated with a particularly aggressive form of uterine cancer,” Dr. Catherine Shu, a medical oncologist at Columbia University Medical Center, said in a press release.

For the study, published in the journal JAMA Oncology, researchers analyzed data on 1,083 women who tested positive for either BRCA1 or BRCA2 mutations between 1995 and 2001 but did not have hysterectomy, comparing their cancer statistics to expected rates based on the Surveillance, Epidemiology, and End Results study.

While just 1 of the 453 women with BRCA2 mutations developed serious uterine cancer, this was not considered a statistically significant increase in risk. The 4 out of 627 women with BRCA1 mutations, however, represented a 22 percent increase over the expected risk, which researchers call “striking.”

“While the overall risk is relatively low,” Shu said, “women with these mutations may want to talk to their surgeons about whether they should have a hysterectomy, along with other surgery, to further reduce their cancer risk.”


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